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Summary Handbook of
Disorders & Syndromes

      Spring 2008

ADHD is one of the most commonly diagnosed behavioral disorders of childhood. The core
symptoms of ADHD are developmentally inappropriate levels of inattention, hyperactivity, and
impulsivity. These problems are persistent and usually cause difficulties in one or more major
life areas: home, school, work, or social relationships.

The three subtypes of ADHD are: Predominantly Inattentive Type, predominantly Hyperactive-
Impulsive Type, and Combined Type.

Inattention (DSM-IV-TR)
       -often fails to give close attention to details or makes careless mistakes in schoolwork,
work or other
       -often has difficulty sustaining attention in tasks or play activities
       -often does not seem to listen when spoken to directly
       -often does not follow through on instructions and fails to finish schoolwork, chores, or
duties in the
       -often has difficulty organizing tasks and activities
       -often avoids, dislikes, or is reluctant to engage in tasks that require sustained mental
       -often loses things necessary for tasks or activities
       -is often easily distracted by extraneous stimuli

Hyperactivity (DSM-IV-TR)
      -often fidgets with hands or feet or squirms in seat
      -often leaves seat in classroom or in other situations in which remaining seated is
      -often runs about or climbs excessively in situations in which it is inappropriate
      -often has difficulty playing or engaging in leisure activities quietly
      -is often on the go or often acts as if “driven by a motor”
      -often talks excessively

Impulsivity (DSM-IV-TR)
     -often blurts out answers before questions have been completed
     -often has difficulty awaiting turn
     -often interrupts or intrudes on others
The following must be true:

         1) There must be clear evidence of significant difficulty in two or more settings
         2) Symptoms of inattention, hyperactivity, or impulsivity must be present at least six
         3) Some of these symptoms have to cause problems before age 7
         4) The symptoms have to be developmentally inappropriate

Recommended Diagnostic Procedure
     1) A thorough medical and family history
     2) A medical examination for general health and neurological status
     3) A comprehensive interview with teachers, parents, and child
     4) Standardized behavior rating scales
     5) Observation of the child
     6) A variety of standardized tests to measure IQ, social/emotional adjustment, possible
          presence of learning disabilities
School Issues

Elementary Years
     -off task behavior
     -incomplete or lost assignments
     -sloppy work or messy handwriting
     -not following directions
     -errors in accuracy
     -inconsistent performance
     -disruptive behavior or spacey, daydreaming behavior
     -social interaction difficulties

Middle and High School Years
     -all of the above
     -time management
     -prioritizing work
     -reading comprehension
     -note taking
     -study skills
     -completing multi-step tasks

There are two main types of speech apraxia: acquired apraxia of speech and developmental
apraxia of speech. Acquired apraxia of speech can affect a person at any age, although it most
typically occurs in adults. It is caused by damage to the parts of the brain that are involved in
speaking, and involves the loss or impairment of existing speech abilities. The disorder may
result from a stroke, head injury, tumor, or other illness affecting the brain. Acquired apraxia
of speech may occur together with muscle weakness affecting speech production (dysarthria)
or language difficulties caused by damage to the nervous system (aphasia).
Developmental apraxia of speech (DAS) occurs in children and is present from birth. It appears
to affect more boys than girls. This speech disorder goes by several other names, including
developmental verbal apraxia, developmental verbal dyspraxia, articulatory apraxia, and
childhood apraxia of speech. DAS is different from what is known as a developmental delay of
speech, in which a child follows the "typical" path of speech development but does so more
slowly than normal.
The cause or causes of DAS are not yet known. Some scientists believe that DAS is a disorder
related to a child's overall language development. Others believe it is a neurological disorder
that affects the brain's ability to send the proper signals to move the muscles involved in
speech. However, brain imaging and other studies have not found evidence of specific brain
lesions or differences in brain structure in children with DAS. Children with DAS often have
family members who have a history of communication disorders or learning disabilities. This
observation and recent research findings suggest that genetic factors may play a role in the


      -speech-language therapy
      -for more severe cases, alternative communication devices
                   ASPERGER SYNDROME

Asperger syndrome is a neurobiological disorder, which most researchers feel falls at the “high
end” of the autistic spectrum. Individuals with Asperger syndrome can have symptoms from
mild to severe. The essential features are severe and sustained impairment in social
interaction and the development of restricted, repetitive patterns of behavior, interests, and
activities. The disturbance must cause clinically significant impairment in the social,
occupational, or other important areas of functioning. In contrast to Autistic Disorder, there
are no clinically significant delays in language, cognitive development, age-appropriate self-
help skills, adaptive behavior, and curiousity about the environment in childhood.


        -poor social skills/failure to develop peer relationships appropriate to developmental
      -difficulties with transitions or changes in routine
      -obsessive routines and may be preoccupied with a particular subject matter of interest
      -great deal of difficulty reading nonverbal clues
      -difficulty determining proper body space
      -often overly sensitive to sounds, tastes, smells, and sights
      -have normal IQ
      -many exhibit an exceptional skill or talent in a specific area
      -often view as eccentric or odd and can easily become a target of bullying and teasing
      -vocabularies may be extraordinarily rich
      -can be extremely literal and have difficulty using language in a social context
      -motor delays or motor clumsiness
      -marked impairment in eye-to-eye gaze, facial expression, body postures, and gestures
to regulate
             social interaction
                          BIPOLAR DISORDER
Bipolar disorder is a serious mental illness characterized by recurrent episodes of depression, mania, and/or
mixed symptom states. These episodes cause unusual and extreme shifts in mood, energy, and behavior that
interfere significantly with normal, healthy functioning.

Manic symptoms include:

      Severe changes in mood, either extremely irritable or overly silly and elated
      Overly-inflated self-esteem; grandiosity
      Increased energy
      Decreased need for sleep, ability to go with very little or no sleep for days without tiring
      Increased talking, talks too much, too fast; changes topics too quickly; cannot be interrupted
      Distractibility, attention moves constantly from one thing to the next
      Hypersexuality, increased sexual thoughts, feelings, or behaviors; use of explicit sexual language
      Increased goal-directed activity or physical agitation
      Disregard of risk, excessive involvement in risky behaviors or activities
      Irritable and prone to destructive outbursts
      Alcohol/substance abuse
      Difficulty with relationships

Depressive symptoms include:

      Persistent sad or irritable mood
      Loss of interest in activities once enjoyed
      Significant change in appetite or body weight
      Difficulty sleeping or oversleeping
      Physical agitation or slowing
      Loss of energy
      Feelings of worthlessness or inappropriate guilt
      Difficulty concentrating
      Recurrent thoughts of death or suicide
      Many physical complaints such as headaches, muscle aches, stomachaches or tiredness
      Frequent absences from school or poor performance
      Talk of efforts to run away from home
      Poor communication or social isolation
      Extreme sensitivity to rejection or failur
      Alcohol/substance abuse
      Difficulty with relationships

Chromosome 13, Partial Monosomy 13q is a rare chromosomal disorder in which a portion of
the long arm (q) of chromosome 13 is missing. The range and severity of symptoms may vary
greatly, depending upon the exact size and location of the deletion on 13q.

Characteristics Include:
     -low birth weight
     -malformations of the head and facial area
     -abnormalities of the eyes
     -defects of the hands and/or feet


      -Delays in the acquisition of skills requiring coordination of mental and muscular activity
      -Varying degrees of mental retardation
      -Stunted growth
            COLLAGENOPATHY (II & XI)

The type II and XI collagenopathies are a group of disorders that affect connective tissue, the
tissue that supports the body's joints and organs. These disorders are caused by defects in
type II or type XI collagen. Collagens are complex molecules that provide structure, strength,
and elasticity to connective tissue. Type II and type XI collagen disorders are grouped together
because both types of collagen are components of the cartilage found in joints and the spinal
column, the inner ear, and the jelly-like substance that fills the eyeball (the vitreous). The type
II and XI collagenopathies result in similar clinical features.
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body.
The features of this disorder vary widely among affected individuals and range from relatively
mild to severe.
Cornelia de Lange syndrome is characterized by slow growth before and after birth, mental
retardation that is usually severe to profound, abnormalities involving the arms and hands,
and distinctive facial features. The facial differences include thin, arched eyebrows; long
eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected
individuals also have behavior problems similar to autism, a developmental condition that
affects communication and social interaction.
Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body
hair, an unusually small head, hearing loss, and problems with the digestive tract. Some
people with this condition are born with an opening in the roof of the mouth called a cleft
palate. Seizures, heart defects, eye problems, and skeletal abnormalities also have been
reported in people with this condition.


      -severe speech delay
      -mild to moderate mental retardation
      -hearing impairment
      -poor social interactions
      -severe motor delays
      -visual-spatial memory and perceptual organizational skills are strengths
      -upper limb malformations
      -self-injurious behaviors
      -daily aggression
      -sleep disturbance
      -prefer structure and have difficulty with changes in routine
      -repetitive and stereotypic behaviors
      -severe language delays

Cri-du-chat (cat's cry) syndrome, also known as 5p- syndrome, is a chromosomal condition that
results when a piece of chromosome 5 is missing. Infants with this condition often have a high-
pitched cry that sounds like that of a cat.

Characteristics include:
     -distinctive facial features – downward slant to the eyes, wide-set eyes, low-set or
abnormally shaped
             ears, skin tags just in front of the ear, small jaw,
     -small head size (microcephaly)
     -low birth weight and poor growth
     -weak muscle tone (hypotonia) in infancy
     -some children with cri-du-chat syndrome are also born with a heart defect
     -partial webbing or fusing of fingers or toes

      -disorder is characterized by mental retardation and delayed development
      -feeding problems because of difficulty swallowing and sucking
      -severe cognitive, speech, and motor delays
      -behavior problems such as hyperactivity, aggression, tantrums, and repetitive
      -slow or incomplete development of motor skills
      -depending on extent of mental retardation and physical abnormalities may be unable
to care for self
              and function in society
                       CUSHINGS DISEASE

Cushing's syndrome occurs when the body's tissues are exposed to excessive levels of cortisol
for long periods of time. Many people suffer the symptoms of Cushing's syndrome because
they take glucocorticoid hormones such as prednisone for asthma, rheumatoid arthritis, lupus
and other inflammatory diseases, or for immunosuppression after transplantation. Cushing's
disease is the name doctors use when Cushing's syndrome is caused by a tumor in the pituitary
gland. The pituitary gland is on the bottom of the brain and controls the body's production of
cortisol. These small tumors can cause the adrenal glands, which are near the kidneys, to make
too much cortisol.

Characteristics Include:

      -fat deposits around your stomach and upper back
      -skin gets thinner and is easily bruised
      -cuts, scratches, and insect bites take a long time to heal
      -pink or purple stretch marks may form on your skin
      -face may become round and puffy
      -fatigue and weak muscles
      -Skin and other infections often occur and take longer to heal


      -routine activities such as bending, lifting, or rising from a chair may lead to backaches,
rib and spinal
              column fractures
      -severe fatigue
      -irritability, anxiety and depression
                DI GEORGE SYNDROME
DiGeorge Syndrome is a rare congenital disease that affects an infant’s immune system, due to
a large deletion from chromosome 22. Also called Catch 22 disorder and Congenital Thymic

Characteristics Include:
     -Absence or underdevelopment of the thymus and parathyroid glands
     -Primary problem for children who survive this syndrome is repeated infections due to
     a defective immune system
     -High percentage have certain forms of congenital heart disease
     -Characteristic facial features, cleft palate
     -Some have problems with their kidneys – UTIs, bedwetting and urinary frequency


      -Learning problems, specifically with speech and language are common
      -Developmental delays

Dyslexia is a learning disability that manifests primarily as a difficulty with written language,
particularly with reading and spelling. It is separate and distinct from reading difficulties
resulting form other causes, such as non-neurological deficiency with vision or hearing, or
from poor or inadequate reading instruction.

Evidence suggests that dyslexia results from differences in how the brain processes written
language and/or verbal language. Although dyslexia is the result of a neurological difference,
it is not an intellectual disability. Dyslexia is a result of a neurological differences, it is not an
intellectual disability. Dyslexia occurs at all levels of intelligence; sub-average, average, above
average, and highly gifted.

Dyslexia is most commonly characterized by:

      -difficulties learning how to decode

      -difficulty spelling

      -difficulty reading accurately andfluently

      -often have difficulty “breaking the code” of sound-letter association

      -may also have reverse or transpose letters when writing

      -may have poor short-term memory skills

      -poor personal organizational skills

      -problems processing spoken language


      -auditory processing problems
                        FETAL ALCHOL EFFECT
Fetal Alcohol Effects (FAE) is one of a spectrum of neurological impairments that can affect a child who has been
exposed to alcohol in the womb. Children with FAE are not as obviously impaired as children diagnosed with Fetal
Alcohol Syndrome (FAS) -- they usually lack the distinctive FAS facial features and have normal IQs -- and so FAE is
sometimes described as less serious. Sadly, however, children with FAE are in fact more likely to have negative
outcomes such as trouble with school, trouble with the law and teen pregnancy; the fact that they look "normal" but
can't behave that way due to brain damage causes them to face unrealistic expectations without appropriate support,
which can have serious repercussions for these children and their families. The term Fetal Alcohol Spectrum Disorder
(FASD) is being used more and more to stress the fact that there are a variety of ways in which alcohol can affect a
developing child and no particular set of impairments is "better" or "worse."

Characteristics Include:
        -have difficulty structuring work time
        -show impaired rates of learning
        -experience poor memory
        -have trouble generalizing behaviors and information
        -act impulsively
        -exhibit reduced attention span
        -display fearlessness and are unresponsive to verbal cautions
        -demonstrate poor social judgment
        -cannot handle money appropriate to their age
        -have trouble internalizing modeled behaviors
        -may have differences in sensory awareness
        -language production higher than comprehension
        -show poor problem solving strategies

Effective intervention strategies include:

               Fostering independence in self-help and play.
               Give your child choices and encourage decision-making.
               Focus on teaching daily living skills.
               Encourage the use of positive self talk
               Have child get ready for next school day before going to bed.
               Establish a few simple rules. Use identical language to remind them of the rules.
               Establish routines so child can predict coming events.
               Give child lots of advance warning that activity will soon change to another one.
               For unpredictable behavior at bedtime/mealtime, establish a firm routine.
               Break their work down into small pieces so they do not feel overwhelmed.
               Be concrete when teaching a new concept. Show them.
                     FETAL ALCHOL EFFECT

Behavior Strategies:

             Set limits and follow them consistently.
             Change rewards often to keep interest in reward getting high.
             Review and repeat consequences of behaviors.
             Notice and comment when your child is doing well or behaving appropriately.
             Avoid threats.
             Redirect behavior.
             Intervene before behavior escalates.
             Avoid situations where child will be over stimulated.
             Have child repeat back their understanding of directions.
             Protect them from being exploited.
             Have pre-established consequences for misbehavior.
                 FRAGILE X SYNDROME

Fragile X Syndrome is the single most common inherited cause of mental impairment. Fragile X
is a family of genetic conditions, which can impact individuals and families in various ways.
These genetic conditions are related in that they are all caused by gene changes in the same
gene, called the FMR1 gene.

    -mental impairment, ranging from learning disabilities to mental retardation
    -attention deficit and hyperactivity
    -anxiety and unstable mood
    -autistic-like behaviors
    -seizure disorders
    -speech language disorders
    -sensory motor problems
    -sweet and loving, strong desire for social interactions
    -sensitivity to sound or light
    -physical therapy
    -adaptive P.E.
    -fine motor skills are better than gross motor skills due to low muscle tone
                        GRAVES’ DISEASE

The leading cause of hyperthyroidism, Graves' disease represents a basic defect in the immune
system, causing production of immunoglobulins (antibodies) which stimulate and attack the
thyroid gland, causing growth of the gland and overproduction of thyroid hormone. Similar
antibodies may also attack the tissues in the eye muscles and in the pretibial skin (the skin on
the front of the lower leg).

Characteristics Include:
     -Weight loss
     -Rapid heart beat, heart palpitations
     -Muscle weakness
     -Heat intolerance
     -Enlarged thyroid gland
     -Increased sweating
     -Blurred or double vision
     -Nervousness & irritability
     -Eye complaints, such as redness and swelling
     -Erratic behavior
     -Increased appetite


      -Erratic behavior
      -Distracted attention span
      -Possible severe emotional disorders

Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebrospinal
fluid in the brain. The excessive accumulation of CSF results in an abnormal dilation of the spaces in the brain
called ventricles. This dilation causes potentially harmful pressure on the tissues of the brain.

Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to CSF.
For example, an infant's ability to tolerate CSF pressure differs from an adult's. The infant skull can expand to
accommodate the buildup of CSF because the sutures (the fibrous joints that connect the bones of the skull)
have not yet closed.

In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or
an unusually large head size. Other symptoms may include vomiting, sleepiness, irritability, downward
deviation of the eyes (also called "sunsetting"), and seizures.

Older children and adults may experience different symptoms because their skulls cannot expand to
accommodate the buildup of CSF. In older children or adults, symptoms may include headache followed by
vomiting, nausea, papilledema (swelling of the optic disk which is part of the optic nerve), blurred vision,
double vision, sunsetting of the eyes, problems with balance, poor coordination, gait disturbance, urinary
incontinence, slowing or loss of development, lethargy, drowsiness, irritability, or other changes in personality
or cognition including memory loss.

Symptoms of normal pressure hydrocephalus include progressive mental impairment and dementia, problems
with walking, and impaired bladder control leading to urinary frequency and/or incontinence. The person also
may have a general slowing of movements or may complain that his or her feet feel "stuck."


       -learning disabilities
       -tend to score better on verbal IQ than on performance IQ
       -some are average or above average intelligence
       -motivation problems
       -vision problems
       -poor coordination
       -they may hit puberty early
       -one in four develops epilepsy
       -problems with balance
       -gait disturbance
       -urinary incontinence
       -slowing or loss of development
       -memory loss

Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized
by a small body, short limbs, and abnormal bone formation (ossification) in the spine and

Characteristics Include:
     Affected infants
             Have short arms and legs
             A small chest with short ribs and underdeveloped lungs
             Bones of the spine and pelvic bones do not harden properly
             The face appears flat and oval-shaped with widely spaced eyes, a small chin and
                    sometimes a cleft palate
             The abdomen is enlarged

Affected infants are usually born prematurely, are stillborn, or die shortly after birth from
respiratory failure. Some infants have lived for a while, however, with intensive medical
support. Babies who live past the newborn period are usually reclassified as having
spondyloepiphyseal dysplasia congenita, a related disorder that affects bone development.

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare
disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and
occasionally problems with vision and hearing. The name of the condition indicates that it
affects the bones of the spine and the ends of bones and that it is present from birth.
Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.
People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short
trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized.
Curvature of the spine progresses during childhood and can cause problems with breathing.
Changes in the vertebrae in the neck may also increase the risk of spinal cord damage. Other
skeletal signs include flattened vertebrae, a hip joint deformity in which the upper leg bones
turn inward, and an inward- and downward-turning foot (called clubfoot). Decreased joint
mobility and arthritis often develop early in life.
Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X
chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most males have,
these men have an XXY pattern. Even though all boys with Klinefelter syndrome have the extra X
chromosome, not every XXY male has all of those symptoms. Because not every male with an XXY pattern has
all the symptoms of Klinefelter syndrome, it is common to use the term XXY male to describe these men, or
XXY condition to describe the symptoms. Scientists believe the XXY condition is one of the most common
chromosome abnormalities in humans. About one of every 500 males has an extra X chromosome, but many
don’t have any symptoms.

The XXY condition can affect three main areas of development:
      Physical development: As babies, many XXY males have weak muscles and reduced strength. They
      may sit up, crawl, and walk later than other infants. After about age four, XXY males tend to be taller
      and may have less muscle control and coordination than other boys their age.

       As XXY males enter puberty, they often don’t make as much testosterone as other boys. This can lead
       to a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens,
       XXY males may have larger breasts, weaker bones, and a lower energy level than other boys.

       By adulthood, XXY males look similar to males without the condition, although they are often taller.
       They are also more likely than other men to have certain health problems, such as autoimmune
       disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.

       Language development: As boys, between 25 percent and 85 percent of XXY males have some kind of
       language problem, such as learning to talk late, trouble using language to express thoughts and needs,
       problems reading, and trouble processing what they hear.

       As adults, XXY males may have a harder time doing work that involves reading and writing, but most
       hold jobs and have successful careers.
       Social development: As babies, XXY males tend to be quiet and undemanding. As they get older, they
       are usually quieter, less self-confident, less active, and more helpful and obedient than other boys.

       As teens, XXY males tend to be quiet and shy. They may struggle in school and sports, meaning they
       may have more trouble “fitting in” with other kids.

       However, as adults, XXY males live lives similar to men without the condition; they have friends,
       families, and normal social relationships.

     -physical, speech, occupational therapy
     -low self-confidence
     -learning disabilities, despite normal or high IQ
     -attention deficit

Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7
cervical (neck) vertebrae.

Characteristics include:
     -short neck
     -low hairline at the back of the head
     -restricted mobility of the upper spine
     -spina bifida
     -anomalies of the kidneys and ribs
     -cleft palate
     -respiratory problems
     -heart malformations


      -Physical Therapy may be helpful
      -Activities that can injure the neck should be avoided

Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the
sudden or gradual development of aphasia (the inability to understand or express language)
and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control
comprehension and speech. The disorder usually occurs in children between the ages of 5 and
7 years. Typically, children with LKS develop normally but then lose their language skills for no
apparent reason. While many of the affected individuals have seizures, some do not. The
disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental
disorder, hearing impairment, learning disability, auditory/verbal processing disorder,
attention deficit disorder, mental retardation, childhood schizophrenia, or
emotional/behavioral problems.


      -seizures, usually have remission by the age of 15
      -may progress to a complete loss of ability to speak (mutism)
      -complete language recovery has been reported, however, language problems usually
continue into
      -often can continue to communicate through written language if they have learned to
read and write
              before the onset
      -intelligence usually appears to be unaffected
      -decreased attention span
      -oppositional behaviors

LGS is caused by a small deletion of chromosomal material. In LGS a small piece of the 8th chromosome is missing (or
deleted) comprising a number of genes. The loss of these genes is responsible for some of the overall characteristics of

The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial
features, small head (microcephaly) and skeletal abnormalities including bony growths projecting from the surfaces of
bones. These may include benign bony growths on various bones of the body or cone-shaped extensions on the growing
ends (epiphyses) of certain bones, particularly in the hands, and specific craniofacial features. Typically individuals with
LGS have fine scalp hair, ears which may be large or prominent, broad eyebrows, deep-set eyes, bulbous nose, long
narrow upper lip and missing teeth.

Other features associated with this condition may include loose-wrinkled skin and joint laxity or floppiness, hearing loss
(see entry, Deafness) and delayed speech (see entry, Speech and Language Impairment). Individuals with LGS may show a
susceptibility to infections during the first years of life, especially chest infection. Individuals may show some or all of these
features and, in addition, may be differently affected by the severity of their symptoms. The outlook for children with LGS
depends greatly on the severity of the features.


        -Mild to Moderate Learning disabilities to Mental Retardation
        -Hearing Loss
        -Delayed Speech
        -Speech and Language impairment

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder that causes tumors to grow on the
covering of the nerves anywhere in the body at any time. The disorder affects 1 in 3,000 males and females of
all races and ethnic groups. The NF-1 gene is located on chromosome 17.

Neurofibromatosis (NF) is a condition that causes tumors to grow on nerve tissue, producing skin and bone
abnormalities. NF is often diagnosed in childhood, occasionally in infancy but usually around 3-16 years of age.
The effects of the disease vary widely. Some children might live almost unaffected by the condition. Although
rare, others might be severely disabled.

Children with more severe forms of the disorder are usually diagnosed in infancy. Although there's no specific
cure for NF, tumors can usually be removed and related complications can be treated. Children with NF may
need some additional help in the classroom, because learning disabilities are seen in about half of children
with the disease.


       -visual impairment, blindness
       -speech impairments
       -café-au-lait spots
       -digestive tract: pain, vomiting, constipation, diarrhea
       -brain tumors
       -brain blood vessel defects
       -learning disabilities
       -mental retardation
       -oversized head
       -high blood pressure
       -early or delayed puberty
       -delay in learning to talk or walk
       -short stature
       -poor school performance
       -severe itching
       -psychosocial problems
       -false joints
       -bone deformities

NLD is a neurological syndrome characterized by the impairment of nonverbal or performance-based information
controlled by the right hemisphere of the brain. Difficulties will arise in the areas of gross motor skills, inability to
organize visual-spatial relations, or adapt to novel social situations. Frequently, a person with NLD is unable to interpret
non-verbal signals and cues, and therefore he or she experiences difficulty interacting with peers in socially normative
ways. A person with this neurological condition may frequently excel in areas of verbal ability, as well as have excellent
spelling and reading comprehension skills. A diagnosis of a nonverbal learning disorder has no correlation to level of

NLD generally presents with specific assets and deficits. The assets include early speech and vocabulary development,
remarkable rote memory skills, attention to detail, early reading skills development and excellent spelling skills. In
addition, these individuals have the verbal ability to express themselves eloquently. Moreover, persons with NLD have
strong auditory retention.

The four major categories of deficits and dysfunction present as follows:

        -Motor: (lack of coordination, particularly on the left-hand side of the body, severe balance problems, and
        difficulties with graphomotor skills).
        -Visual-Spatial-Organizational (lack of image, poor visual recall, faulty spatial perceptions, difficulties with
        executive functioning[1] and problems with spatial relations).
        -Social (lack of ability to comprehend nonverbal communication, difficulties adjusting to transitions and novel
        situations, and deficits in social judgment and social interaction).
        -Sensory (sensitivity in any of the sensory modes: visual, auditory, tactile, taste or olfactory).

Persons with NLD are particularly inclined toward developing secondary internalizing disorders such as stress, anxiety
and panic, as well as debilitating phobias. Without appropriate intervention, the cumulative effect of ongoing stress can
advance to an unmanageable state of anxiety for an NLD person, who is already predisposed to internalizing disorders.
Brain scans of individuals with NLD often confirm mild abnormalities of the right cerebral hemisphere.

        -often has trouble finding there way around – is often lost and tardy
        -has difficulty coping with changes in routine and transitions
        -has difficulty generalizing previously learned material
        -has difficulty following multi-step instructions
        -makes very literal translations
        -asks too many questions
        -is easily overwhelmed
        -may experience heightened sensory experiences
        -may develop secondary issues with stress and anxiety (chronic fears, overly anxious, worry obsessively, self-
                criticism, etc)
                   NOONAN SYNDROME

Noonan Syndrome (NS) is a genetic disorder that prevents normal development in various
parts of the body. A child may be affected by Noonan syndrome in various ways: congenital
heart malformation, unusual facial characteristics, short stature, heart defects, other physical
abnormalities and problems.

Characteristics include:

      -heart defect
      -failure to thrive
      -decreased appetite
      -swallowing difficulties
      -webbed neck
      -joint and muscle pain
      -easy bruising
      -blood clotting
      -slow growth
      -large head
      -triangular shaped face
      -short stature
      -widely set eyes


      -poor coordination
      -motor delay
      -mental retardation
      -learning disabilities
      -speech and language delays
      -low self-esteem
      -social difficulties related to physical problems
               SYNDROME (OMS)
Childhood opsoclonus-myoclonus syndrome (OMS) is a movement disorder which typically
strikes children in the early preschool years, often before the age of two. The syndrome has
been called by other names, such as "Kinsbourne syndrome" or "dancing-eyes-dancing-feet."
"Opsoclonus" is an unusual disorder of eye movement in which both eyes dart involuntarily
(“dancing eyes”). "Myoclonus" simply means brief muscle spasms. OMS is a relatively rare
syndrome; the onset is most often associated with infections, viruses, and neuroblastoma
tumors. Neuroblastoma tumors in the chest, abdomen or pelvis are found in about half the
cases of opsoclonus-myoclonus. Although the tumors do not directly cause the symptoms, it is
believed that the body’s response to the tumor injures parts of the brain that control
coordination and learning. After surgical removal of the tumor, follow-up therapies often
include chemotherapy, immunotherapy, plasmapheresis, and/or medications as
recommended by physicians to control symptoms.

Lingering presentations can include: lack of coordination, instability of the trunk, slurred
speech, sleep disturbances, and swallowing problems.

Early identification and evaluation are the keys to optimum educational benefit. For children
with mild to moderate OMS, their symptoms may lessen over time; however, the lack of
coordination often persists. Learning and behavior issues, such as ADD/ADHD, are sometimes
associated with OMS. Relapses or increase in severity of symptoms can occur with minor

IEP Teams should consider the individual student’s need for services including Occupational
Therapy, Speech Therapy, Physical Therapy, and counseling

Children with severe opsoclonus-myoclonus at the start have the highest risk of permanent
neurologic impairment.

Obsessive-compulsive disorder is a serious mental illness characterized by recurrent
obsessions or compulsions that are severe enough to be time consuming or cause marked
distress or significant impairment.

Adolescents may be aware that their symptoms don’t make sense and are excessive, but
younger children may be distressed only when they are prevented from carrying out their
compulsive habits.

Obsessions are persistent ideas, thoughts, impulses, or images that are experience as intrusive
and inappropriate and that cause marked anxiety or distress. Most common are obsessions
about contamination, repeated doubts, a need to have things in a particular order, aggressive
or horrific impulses (to hurt someone or to shout profanity), and sexual imagery. The thoughts,
impulses, or images are not simply excessive worries about real-life problems (school
problems, etc.) and are unlikely to be related to a real-life problem.

Compulsions are repetitive behaviors (hand washing, ordering, checking) or mental acts
(praying, counting, repeating words silently) the goal of which is to prevent or reduce anxiety
or distress, not to provided pleasure or gratification. In most cases, the person feels driven to
perform the compulsion to reduce the stress that accompanies an obsession or to prevent
some dreaded event or situation. The most common compulsions involve washing and
cleaning, counting, checking, requesting or demanding assurances, repeating actions, and


Oppositional Defiant Disorder is a pattern of negativistic, hostile, and defiant behavior without
the more serious violations of the basic rights of others that are seen in conduct disorder.

Typical causes include: sexual/physical abuse, familial pattern, multiple caregivers at an early
age, inconsistent parenting, temperament issues, environmental stressors,
unrecognized/untreated depression/grief issues

Diagnosing ODD

      A. Recurrent pattern for at least six months

      B. Characterized by at least four of the following behaviors:

             a. Losing temper

             b. Arguing with adults

             c. Actively defying or refusing to comply w/ the requests of rules of adults

             d. Deliberately doing things that will annoy other people

             e. Blaming others for his or her own mistakes or misbehavior

             f. Being touchy or easily annoyed by others

             g. Being angry or resentful

             h. Being spiteful or vindictive

      C. Greater frequency than age-appropriate peers

      D. Significantly impairs normal functioning socially or academically

Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by
deletion of a portion of the short arm (p) of chromosome 7 (7p). Associated symptoms and
findings may be variable and may depend on the specific size and location of the deleted
segment of 7p. However, in many cases, there is early closure of the fibrous joints between
certain bones of the skull, resulting in an abnormally shaped head. For example, depending on
the specific sutures involved, the forehead may appear unusually "triangular shaped" or the
head may seem abnormally long and narrow with the top pointed. Affected infants and
children may also have additional malformations of the skull and facial . Such abnormalities
may include an unusually small head, closely or widely set eyes, downslanting eyelid folds,
and/or other findings.

Partial Monosomy 7p may also be characterized by additional physical features, such as
growth deficiency, musculoskeletal abnormalities, genital defects, structural malformations of
the heart that are present at birth, and/or other abnormalities.

       -Varying degrees of mental retardation
       -Delays in the acquisition of skills requiring the coordination of mental and motor
       -Normal intelligence has also been reported

The term Pervasive Developmental Disorders was first used in the 1980s to describe a class of disorders. This class of
disorders has in common the following characteristics: impairments in social interaction, imaginative activity, verbal and
nonverbal communication skills, and a limited number of interests and activities that tend to be repetitive.


   Autistic Disorder                         Childhood Disintegrative                              PDDNOS

                          Rett’s Disorder                                    Asperger’s Disorder

Some doctors, however, are hesitant to diagnose very young children with a specific type of PDD, such as Autistic
Disorder, and therefore only use the general category label of PDD. This approach contributes to the confusion
about the term, because the term PDD actually refers to a category of disorders and is not a diagnostic label.

All types of PDD are neurological disorders that are usually evident by age 3. In general, children who have a type of
        -have difficulty in talking
        - playing with other children
        -relating to others, including their family.

are characterized by severe and pervasive impairment in several areas of development:

        • social interaction skills;
        • communication skills; or
        • the presence of stereotyped behavior, interests, and activities.

Pervasive Developmental Disorders
A. A total of six (or more) items from (1), (2), and (3), with at least
two from (1), and one each from (2) and (3):

(1) qualitative impairment in social interaction, as manifested by at least two of the following:
        (a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body
        postures, and gestures to regulate social interaction
        (b) failure to develop peer relationships appropriate to developmental level
        (c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack
        of showing, bringing, or pointing out objects of interest)
        (d) lack of social or emotional reciprocity

(2) qualitative impairments in communication as manifested by at least one of the following:
        (a) delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate
        through alternative modes of communication such as gesture or mime)
        (b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with
        (c) stereotyped and repetitive use of language or idiosyncratic language
        (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

(3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the
         (a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal
         either in intensity or focus
         (b) apparently inflexible adherence to specific, nonfunctional routines or rituals
         (c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body
         (d) persistent preoccupation with parts of objects

B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years:
        (1) social interaction,
        (2) language as used in social communication, or (3) symbolic or imaginative play.

C. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.

      Around 18 months parents notice a change in behavior and some regression
             -gross motor skills
             -obvious loss of abilities in speech, reasoning and hand use
             -repetition of meaningless gestures or movements (handwringing/washing)

     An extremely rare disorder, usually following about 2 years of normal development and an onset prior to age 10, a
     clearly apparent regression in multiple areas of functioning
              -ability to move
              -bladder and bowel control
              -social and language skills

     A developmental disorder characterized by
            -lack of social skills
            -difficulty with social relationships
            -poor coordination
            -poor concentration
            -restricted range of interests
            -normal intelligence
            -adequate language skills in the areas of vocabulary and grammar
            -no significant delay in language development
            -difficulty understanding the subtleties used in conversation, such as irony and humor

     -Used when symptoms no not fully meet the criteria of any of the four types of PDD above and/or do not have the
     degree of impairment described in any of above

Prader-Willi Syndrome is an uncommon, non-inherited birth defect, lifelong and life-
threatening, affecting all races and sexes.

Characteristics include:
     -insatiable appetite
     -obesity if food intake is not controlled
     -hypogonadism and incomplete sexual development
     -developmental delays
     -variable degrees of mental retardation or functional retardation
     -short stature
     -small hands and feet
     -mild dysmorphology
     -behavior problems


-Motor development is delayed, typically one to two years
-Speech and Language problems are common
-Verbal ability is often a strength, but articulation remains poor
-Average IQ is around 70
-Abstract thinking and concepts are weaknesses
-Behavior Problems ranging from violent temper tantrums, depression and psychotic episodes
-Compulsive eating and obsessions with food, usually beginning between 2 – 4 years of age
-Sneaking or stealing extra food is common
-Sports activities are limited
      -running and jumping can cause joint injuries due to poor muscle strength and
      -incidence of bone fractures is increased
      -adaptive physical exercise is necessary; walking, swimming, and stationary equipment
      are recommended

Reactive attachment disorder (RAD) is the diagnostic term for severe and relatively uncommon
disorders of attachment that can affect children. RAD is characterized by markedly disturbed
and developmentally inappropriate ways of relating socially in most contexts. It can take the
form of a persistent failure to initiate or respond to most social interactions in a
developmentally appropriate way—known as the "inhibited" form—or can present itself as
indiscriminate sociability, such as excessive familiarity with relative strangers—known as the
"disinhibited form".

Characteristics Include:
     -Inhibited RAD
             Failure to thrive
             Poor hygienic condition
             Underdevelopment of motor coordination
             Pattern of muscular hypertonicity
             May appear bewildered, unfocused, and understimulated
             Blank expression with eyes lacking luster and joy that is usually observed
             No evidence of the usual responses to interpersonal exchanges
             Appearance of not knowing body language
             Does not pursue, initiate, or follow up on cues for an exchange or interaction
             No exploration of another person’s face or facial expression
             Does no pursue, initiate, or follow up on cues for an exchange or interaction
             No exploration of another person’s face or facial expression
             Does not approach or withdraw from another person
             May avoid eye contact or fuss if a person comes to close or attempts to touch
                    or hold them
     -Disinhibited RAD
             Instead of caution, excessive familiarity with unknown persons
             Can give hugs to anyone who approaches them and go with that person if asked
             May approach a complete stranger for comfort, food, to be picked up, or to
                    receive a toy
                                    RETT SYNDROME

Rett syndrome is a childhood neurodevelopmental disorder characterized by normal early development followed by loss
of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures,
and mental retardation. It affects females almost exclusively.

The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before
the symptoms begin, however, the child appears to grow and develop normally. Then, gradually, mental and physical
symptoms appear. Hypotonia (loss of muscle tone) is usually the first symptom. As the syndrome progresses, the child
loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or
walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements
such as wringing and washing. The onset of this period of regression is sometimes sudden.

Another symptom, apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature
of Rett syndrome, interfering with every body movement, including eye gaze and speech.

Individuals with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include toe
walking; sleep problems; wide-based gait; teeth grinding and difficulty chewing; slowed growth; seizures; cognitive
disabilities; and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.

There are four stages of Rett syndrome. Stage I, called early onset, generally begins between 6 and 18 months of age. Quite
frequently, this stage is overlooked because symptoms of the disorder may be somewhat vague, and parents and doctors may not
notice the subtle slowing of development at first. The infant may begin to show less eye contact and have reduced interest in toys.
There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not
enough to draw attention. This stage usually lasts for a few months but can persist for more than a year.

Stage II, or the rapid destructive stage, usually begins between ages 1 and 4 and may last for weeks or months. This stage may have
either a rapid or a gradual onset as purposeful hand skills and spoken language are lost. The characteristic hand movements begin to
emerge during this stage and often include wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the
mouth. Hands are sometimes clasped behind the back or held at the sides, with random touching, grasping, and releasing. The
movements persist while the child is awake but disappear during sleep. Breathing irregularities such as episodes of apnea and
hyperventilation may occur, although breathing is usually normal during sleep. Some girls also display autistic-like symptoms such as
loss of social interaction and communication. General irritability and sleep irregularities may be seen. Gait patterns are unsteady and
initiating motor movements can be difficult. Slowing of head growth is usually noticed during this stage.

Stage III, also called the plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and can last for years. Apraxia,
motor problems, and seizures are prominent during this stage. However, there may be improvement in behavior, with less
irritability, crying, and autistic-like features. An individual in stage III may show more interest in her surroundings, and her alertness,
attention span, and communication skills may improve. Many girls remain in this stage for most of their lives.

The last stage, stage IV — called the late motor deterioration stage — can last for years or decades and is characterized by reduced
mobility. Muscle weakness, rigidity (stiffness), spasticity, dystonia (increased muscle tone with abnormal posturing of extremity or
trunk), and scoliosis (curvature of the spine) are other prominent features. Girls who were previously able to walk may stop walking.
Generally, there is no decline in cognition, communication, or hand skills in stage IV. Repetitive hand movements may decrease, and
eye gaze usually improves.

Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. Most people with
Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17.The
major features of this condition include mild to moderate mental retardation, delayed speech and language
skills, distinctive facial features, sleep disturbances, and behavioral problems.
Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks,
and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The
mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in
early childhood, but they usually become more distinctive in later childhood and adulthood. Dental
abnormalities are also common in affected individuals.
Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life.
Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times
each night.
People with Smith-Magenis syndrome have affectionate, engaging personalities, but most also have
behavioral problems.
Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine
(scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder
have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause
nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also
have been reported in people with Smith-Magenis syndrome.


              Speech and language delay
              Learning disability
              Mental retardation (varying degrees, but have IQ’s typically in the 50-60 range)
              Low muscle tone and/or feeding problems in infancy
              Eye problems
              Sleep disturbances – may be very sleepy during the day, but have trouble falling asleep and
               awaken several times each night
              Insensitivity to pain
              Behavioral problems: hyperactivity; head banging; hand/nail biting; skin picking; pulling off
               fingernails and/or toenails; explosive outbursts; tantrums; destructive and aggressive behavior;
               excitability; arm hugging/hand squeezing when excited
              Engaging and endearing personalities
              Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis
              Compulsively lick their fingers and flip pages of books and magazines (“lick and flip”)

Static encephalopathy is defined as “permanent and unchanging” brain damage. The diagnosis
is often used in conjunction with a range of disabilities, such as cerebral palsy, fetal alcohol
syndrome, cognitive impairments, learning disabilities, pervasive developmental disabilities,
speech/language deficits, attention deficits, seizures, and hearing/vision deficits. The leading
cause of developmental disabilities characterized by static encephalopathy is consumption of
alcohol (by the mother) during pregnancy. Anything that damages or injures the brain can
cause static encephalopathy…severe head injuries, bleeding into the brain, meningitis, lack of
oxygen to the brain or encephalitis.

     -fine and gross motor movement difficulties
     -vision and hearing difficulties
     -speech, oral motor, language difficulties
     -learning difficulties ranging from mild to severe
     -organization and attention difficulties
     -emotional and behavior difficulties
     -excessive absenteeism due to related medical conditions and surgeries
     -sensory integration concerns and environmental sensitivity
                        STURGE WEBBER

Sturge-Weber syndrome is a neurological disorder indicated at birth by seizures accompanied
by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face.
The birthmark can vary in color from light pink to deep purple and is caused by an
overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.
Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of
tissue in the cerebral cortex of the brain on the same side of the body as the birthmark.


      -seizures that begin in infancy and may worsen with age
      -convulsions usually on the side of the body opposite the birthmark, vary in severity
      -muscle weakness; physical therapy
      -developmental delays
      -mental retardation
      -“stroke-like” episodes
      -learning disabilities
      -progressive visual loss and blindness

Toxoplasmosis is an infection caused by a single-celled parasite called Toxoplasma gondii. The
infection is most commonly acquired from contact with cats and their feces or with raw or
undercooked meat.
Although people infected with toxoplasmosis are often unaware of having this disease, typical
symptoms of toxo are flulike symptoms including swollen lymph nodes and muscle aches and
pains that last from a few days to several weeks. If your immune system is normal, you cannot
get the infection again.

Pregnant women with toxoplasmosis can pass this on to their babies. While there are usually
no symptoms at birth, they do tend to develop later, including:
      -blindness or severely impaired vision
      -mental retardation
      -a small percentage are born with eye or brain damage
      -cerebral palsy

Treacher Collins Syndrome, also called mandibulofacial dysostosis, affects the head and face.
Treacher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5,
which affects facial development.

Characteristics include:

      down-slanting eyes
      notched lower eyelids
      underdevelopment or absence of cheekbones and the side wall and floor of the eye
      lower jaw is often small and slanting
      forward fair in the sideburn area
      underdeveloped, malformed and/or prominent ears
      cleft palate


       -have normal development and intelligence
       -early hearing tests are important usually 40% hearing loss
       -speech/language interventions
       -breathing problems and/or eating difficulties
       -eyes have a tendency to dry out leading to infection
                               TRISOMY 18

Trisomy 18 (Edwards Syndrome) is a relatively common syndrome affecting approximately 1
out of 3,000 live births. It is three times more common in girls than boys. The syndrome is
caused by the presence of an extra material from chromosome 18. The extra material
interferes with normal development. Unlike Down syndrome, Trisomy 18 is usually fatal, with
most of the babies dying before birth and those who do make it to birth typically living only a
few days. However, a small number of babies (<10%) live at least one year. Some children have
survived to teenage years, but with serious medical and developmental problems

Characteristics include:
     -clenched hands
     -crossed legs
     -heart diseases
     -hole, split, or cleft in the iris
     -kidney problems
     -low birth rate
     -low-set ears
     -mental deficiency
     -separation between the left and right side of the rectus abdominis muscle
     -small head, small jaw
     -umbilical hernia
     -underdeveloped fingernails
     -unusual shaped chest
                     TURNER SYNDROME

Turner syndrome (TS) is a chromosomal condition that describes girls and women with
common features that are caused by complete or partial absence of the second sex

The most common feature of Turner syndrome is short stature. The average height of an adult
TS woman who has received human growth hormone treatment is 4’8”. Individuals tend to be
a little shorter at birth, averaging 18.5” compared to an average of 20” for all girls. Growth
failure continues after birth, and most girls with TS fall below the normal female growth curve
for height during early childhood. TS girls who are not treated with hormone replacement
usually do not have a pubertal growth spurt; many will continue to grow at a slow rate until
they are in their twenties. Many girls who undergo growth hormone treatment have been able
to achieve adult height within the lower range of normal.


      -normal, overall intelligence
      -difficulty with temporal-spatial processing spatial-temporal processing (imagining
objects in relation
              to each other)
      -nonverbal memory
      -problems with math
      -problems with sense of direction
      -problems with manual dexterity
      -social skills difficulties
      -hearing loss

As a result of sharing a single placenta, the blood supplies of identical twin fetuses can become
connected, so that they share blood circulation: although each fetus uses its side of the
placenta, the blood vessels connecting the twins allow blood to pass from one twin to the
other. Depending on the number, type and directions of the interconnecting blood vessels,
blood can be transferred disproportionately from one twin (the “donor”) to the other (the
“recipient”). The transfusion causes the donor twin to have decreased blood volume, retarding
the donor’s development and growth, and also decreased urinary output, leading to l ower
than normal level of amniotic fluid. The blood volume of the recipient is increased, which can
strain the fetus’s heart and eventually lead to hear failure, and also higher than normal urinary
output, which can lead to excess amniotic fluid.

In early pregnancy (before 26 weeks), TTTS can cause both fetuses to die, or lead to severe
disabilities. If TTTS develops after 26 weeks, the babies can usually be delivered and have
greater chance of survival without disability.

The initials in V.A.T.E.R. syndrome refer to five different areas in which a child may have
abnormalities: Vertebrae, Anus, Trachea, Esophagus, and Renal (kidneys). There may also be
cardiac and limb conditions, which changes the acronym to V.A.C.T.E.R.L. A child diagnosed
with one of these syndromes will not necessarily have a problem in every area, but a
constellation of birth defects involving many of the areas. The survival rate is very much
dependent on how severe the defects are. There is no currently known cause, but a gene
defect is believed to be involved.

V - Vertebrae problems, For example, abnormally formed vertebrae, and extra ribs.

A - Anal Anomalies and sometimes rectum problems. For example, there is no opening where
the anus should be

C - Cardiac problems. For example, there may be a hole in the heart or a defective valve

T - Trachea problems. For example, there is a connection between the trachea and esophagus.

E - Esophagus problems. For example, part of the esophagus is missing.

R - Radius (lower arm bone) and/or Renal (kidney) problems for example, the larger lower arm
bone is abnormally formed, or a thumb is missing or abnormally formed kidney.

L - Limb (arms, hands, legs or feet) problem(s). For example, some are born with extra fingers
or shortened limbs

The incidence of V.A.T.E.R./ V.A.C.T.E.R.L associated abnormalities is very rare. What causes
this association is still somewhat unclear, but they have found some connection to a genetic
abnormality caused by a mutated gene. The prognosis is very dependent on the severity of the
defects and to what extent. Most of the abnormalities are surgically corrected. Majority of the
children born with this association will be hospitalized for the first few years of life until they
are stable enough to go home. Even though these children are developmentally delayed
physically, some of them are still able to function at a mental level that is close to their age
group. With surgery and support, these children can grow up to lead a normal life.
                   WEAVER SYNDROME

Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal
onset), physical growth and bone development (maturation) can occur more quickly than
average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated
reflexes (spasticity), slow development of voluntary movements (psychomotor retardation),
specific physical characteristics, and/or foot deformities. Babies with this syndrome have a
hoarse low-pitched cry.

Hydrocephalus can be defined broadly as a disturbance of formation, flow, or absorption of
cerebrospinal fluid (CSF) that leads to an increase in volume occupied by this fluid in the
central nervous system (CNS). Patients are mentally retarded and have spastic paraplegia.

Characteristics Include:
     -Headaches and neck pain
     -Vomiting, more significant in the morning
     -Blurred vision/Double vision
     -Stunted Growth
     -Difficulty Walking
     -Shuffling Gait
     -Adducted thumbs
     -Spastic paraplegia


      -Mental retardation
      -Possible vision loss

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