Autism Spectrum Disorders (ASD) represents a group of complex developmental disorders which is seen in all ethnic groups across all nations. The majority of available information regarding ASD is derived from developed countries. The available data from developing countries are mostly in the form of case series or retrospective review of records. A systematic approach is highly needed in developing countries to gain more insight of ASD across cultures. In addition, some cultures have unique characteristics such as high rates of consanguinity and endogamy which make them attractive for genetic studies highlighting the need of an improved understanding of ASD in such cultures. A systematic evaluation, clinical and neuro-psychological profiling and pheno-typing might also give more value to such studies by exploring phenotype-genotype association.
Our major aim was to set-up a systematic hospital-based registry of ASD patients with a detailed demographic, clinical, and neuro-psychological data to provide the basis of a future country-wide registry.
Methods: This is a report from an ongoing approved research project of studying clinical and molecular characteristics of ASD in Saudi Arabia. We present our analysis of 100 subjects who have been enrolled thus far. The diagnosis of ASD was established by two independent evaluations by experienced clinicians utilizing DSM-IV criteria. Neuro-psychological studies were performed by an experienced neuro-psychologist with over 20 years of experience in evaluating children with developmental disabilities. Children were also evaluated by a multidisciplinary team specialized in evaluating children with ASD. In addition, many individuals underwent evaluations using Autism Diagnostic Observational Schedule (ADOS ) module I and / or Autism Diagnostic Interview – Revised ( ADI-R). The use of ADOS and / or ADI-R will become standard once their translation and adaptation are completed.
The mean age of enrolled patients was 8.2 years (range 2-19). Male-to-female ratio was 4:1. 73% of fathers and 70 % of mothers had a college degree or higher. Parents were first or second degree cousins in 41%, while 18% were from the same extended family. 29% of the subjects had a sibling with ASD. Language regression was reported in 39%. Neuro-psychological profiles showed that 70 % had delay in their cognitive or developmental abilities with severe delay accounting for 18 %, moderate delay for 30 % and mild delay for 22% of the total sample. Self-injurious behaviors were reported in 42% while hyperactivity was reported in 32%. 12 % of subjects had seizures.
There are many similarities between our sample and the published reports on the clinical characteristics of ASD. There are notably unique features of our sample that might prove to be valuable. We think that systematic data collection of ASD patients from developing countries will serve as an important source of furthering our understanding of the clinical as well as the biological aspects of ASD worldwide.