Prevalence of Fragile X Syndrome in Children with ASD in the Philippines

Autism Spectrum Disorder (ASD) is a neurobehavioral disorder characterized by persistent deficits in social communication and repetitive and ritualistic behavior. (DSM-V) The etiology of ASD is heterogeneous with 5-10% of cases having a genetic cause including single gene mutations, duplications or deletions, chromosomal rearrangements, and copy number variations. Fragile X syndrome (FXS) is one of several genetic disorders that have been linked to ASD and is an example of a single gene mutation (Betancur, Sakurai, & Buxbaum, 2009). Testing for FXS and other genetic causes of ASD are standards of practice in more developed countries, however these diagnostic tools are not readily available in the Philippines.

The study will enable the set-up of laboratory facilities that will conduct FXS testing, paving the way for molecular testing of individuals with FXS and ASD in the country. Through this study, the prevalence of FXS and genetic mutations in ASD will be established.

This research project intends to measure the frequency of Fragile X Syndrome using a blood screening test and profiling of individuals diagnosed with Autism Spectrum Disorders (ASD) among children 2 to 6 years old.

The study includes several components, which are as follows:
1. Demographic and Medical History Interview
2. Physical and Neurologic Patient Examination
3. Psychometric and Developmental Assessment
4. Blood Extraction and Molecular Analysis

A copy of the results of the genetic tests and developmental assessment are made available to patients to use for clinical correlation. The patients who test positive on genetic testing also receive genetic counseling.

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