Rett syndrome _29344

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					?Breath, deformation, spasm, insomnia, syndrome

?Rett syndrome


                            Rett syndrome

  Rett syndrome is a severe psychomotor development of children's
    diseases, the incidence is 1/10000-1/15000 girl. The onset of
   clinical features for girls, sexual intelligence, autism, hand
apraxia, stereotypic movements and ataxia. Its etiology and genetics
                          is not yet clear.

First, Rett syndrome clinical stages:

Rett syndrome: clinical manifestations, with certain stages and age-
related, is divided into four phases: Jiangxi province, children's
Neurology Zhong Jian-min

I period: since 6-18 months from the time of onset, duration of
several months. Performance for the development, growth retardation,
head to play and the surrounding environment, without interest,

Phase II: from 1-3 years old, it may take several weeks to several
months. Performance for the development of rapid regression with
irritating phenomenon of apraxia and stereotyped movements, seizures,
autism, language loss, insomnia, self-flagellation.

Phase III: from 2-10 years since the last few months to several years,
and performance for serious mental regression or obvious mental
retardation, autism, performance improved. Convulsion, typical
stereotype of the hand, obviously, somatization ataxia apraxia,
reflection, stiff, wake up, apnea, appetite but losing weight, early
scoliosis, bite.

Phase IV: 10 years old and continued for several years, and
performance for the upper and lower motor neurons and the involvement
of signs, progressive scoliosis, muscle disuse, the body rigid, Biped,
lose the ability to walk independently, growth retardation, cannot
understand and use language, eye to eye Exchange recovery, convulsion
frequency decreases.

Second, Rett syndrome: diagnostic criteria

(A) standard: nine must be

1, prenatal and perinatal normal;

2, born 6 months (May to 18 months) and normal psychomotor

3. normal head circumference at birth;

4 and 5 months to 4 years old head circumference slower growth;

5, and 6 months to 2 years old half-loss of purposeful hand skills,
social decline;

6, language expression and comprehension, severe psychomotor

7, hand's actions, such as writing, wash your hands, clapping,
slapped, biting the hand that twist hand rubbed his hands and
purposeful hand movement disappears;

8, 1-4 years of age appear and ataxia gait apraxia of body;

9, up to 2-5 years of age in order to make a tentative diagnosis.

(Ii) eight supported standards

1, respiratory abnormalities: awake continuously apnea, interruption,
hyperventilation, breath-holding, staring, forced air, saliva,;

2, EEG abnormalities: slow wave background or paroxysmal slow rhythm;
epileptiform discharges, seizure and dinner;

3, Contracture: muscle disuse and muscle Dystonia;

4, convulsion;

5, peripheral vascular movement abnormalities;
6, scoliosis;

7, growth retardation;

8, atrophic little foot.

(3) seven exclusion criteria

1, intrauterine growth retardation;

2, internal organs, increases or other cumulative illness;

3, retinopathy, or optic atrophy;

4, small head at birth;

5, when acquired brain injury during the perinatal period;

6. the existence of certain metabolic disorders or other sexual

7, because of serious infection or trauma to the head of neuropathy.

3. differential diagnosis:

Rett syndrome clinical manifestations in different periods vary
greatly, misdiagnosed as: autism, cerebral palsy, encephalitis,
infantile spasms, tuberous sclerosis, adrenoleukodystrophy, and so on,
in particular, there is a need to focus on autism. Identification of
both table:

IV. treatment

As a result of Rett syndrome: the etiology and pathogenesis is
ambiguous, and therefore no specific treatment. Mainly rely on
intensive care and treatment of disease.

1, physical therapy: enhanced athletic ability, slow down joint,
muscle, contracture of deformation, coordinated balance;

2, listen to music and playing with children ", children with
attention and enhanced communication ability;

3. surgery: operative treatment of the spine curved so that the body
to regain balance and prevent the continuation of the spine
4, anticonvulsant: attack of the convulsions in children, treatment
with antiepileptic drugs;

5. other: Vit B6 and high doses of magnesium on the performance of
autistic children have better efficacy, bromocriptine and naloxone in
some clinical symptoms in children with better.

?Breath, deformation, spasm, insomnia, syndrome

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