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					                           DOCTOR INFORMATION SHEET
    Screening of candidate genes in children and adults with intellectual
            disability with or without autistic spectrum disorder.
Dear Doctor,
We are conducting a research study to see if mutations in newly identified genes can be
responsible for non-specific intellectual disability in females, with or without autistic features,
and would be grateful for your help. We have recently identified mutations in a gene (STK9)
which may be associated with a Rett-like phenotype, in association with autistic features. In
particular, we wish to focus our studies on males and females who have been diagnosed with
Autistic Disorder (using DSM-IV criteria) or Childhood Autism (using ICD-10 criteria), who also
have at least moderate intellectual disability, with or without seizures.

We would be grateful if you could pass on the information sheet, two consent forms (a general
consent form and a consent form for collection, storage and testing of human tissue for
research), and blood request form on to your family. We would appreciate if you could ask
them to read the information sheet, and assist them with completion of the consent forms. The
consent forms then need to be returned to Professor Christodoulou at:

The Western Sydney Genetics Program, Children’s Hospital at Westmead, Locked Bag 4001,
Westmead, NSW, 2145.
If they (or you) have any questions relating to the project or the consent forms they can contact
Professor Christodoulou (Ph. 02 9845 3452).
The blood can be collected through the Pathology Dept at the Children’s Hospital at Westmead
or through a pathology service local to the family. Could you please complete the form for your
In addition, we would appreciate it if you could complete the questionnaire over the page and e-
mail (, fax (02 9845 1864) or post it to Professor Christodoulou.

Once again, thank you for your help.

With kind regards.

Yours sincerely,

John Christodoulou
Professor & Director,
Western Sydney Genetics Program
 Patient name:                                                                       DOB:

 Parent’s Contact Ph. No.:                                                   Sex:
 Clinical Diagnosis:

 Please tick the box that best describes the child’s behaviour.
                                                                                    Yes    No     Don’t   N/A
Delay in the, or total lack of, development of spoken language (not
accompanied by an attempt to compensate through alternative modes of
communication such as gesture or mime)
If he/she has adequate speech, does he/she show marked impairment in the
ability to initiate or sustain a conversation with others
If he/she has adequate speech, does he/she have stereotyped and repetitive
use of language or idiosyncratic language
Lack of varied, spontaneous make-believe play or social imitative play
appropriate to developmental level
Encompassing preoccupation with one or more stereotyped and restricted
patterns of interest that is abnormal either in intensity or focus
Apparent inflexible adherence to specific, non functional routines and rituals

Stereotyped and repetitive motor mannerisms (eg. Hand or finger flapping or
twisting, or complex whole-body movements)
Persistent preoccupation with parts of objects

A marked impairment in the use of multiple nonverbal behaviours such as eye-
to-eye gaze, facial expression, body postures, and gestures to regulate social
Failure to develop peer relationships appropriate to developmental level

A lack of spontaneous seeking to share enjoyment, interests, or achievements
with other people (eg. By a lack of showing, bringing, or pointing out objects of
Lack of social or emotional reciprocity

 Does the patient have intellectual disability?             _______    (yes/no)
 Has a formal IQ assessment been performed?                         _ (yes/no)

 Does the patient have afebrile seizures?
 Seizure type:

 Diagnostic investigations performed (please tick the boxes):                Karyotype
 Fragile X PCR testing             Urine metabolic screen                    Urine succinylpurines

 Other            (please list)

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