Genetic Studies in Autism

Abstract

Autism is a complex neurodevelopmental disorder, which has captured the attention of not only pediatricians but also the parents. From the symptoms until the final diagnosis, parents undergo a diagnostic odyssey that involves a battery of tests without much yield. This has led to an increase in the referrals to the clinical geneticists to rule out the possible genetic etiology that can have implications for the parents for future pregnancy. This chapter focuses on the various genetic causes and their appropriate application in the evaluation of a child with Autism Spectrum Disorders (ASDs).

Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder

“…It is recommended to rule out metabolic disorders in autistic patients who have dysmorphism, microcephaly, ataxia, epilepsy, and severe ID, but not in patients with non-syndromic autism [3,4]. The metabolic investigations used for autism are serum creatinine, cholesterol, lactate, ammonia, amino acids, acylcarnitine, urine mucopolysaccharides, and organic acids [5]. The serum creatinine level should be determined in autistic children to diagnose Cerebral creatine deficiency syndromes (CDS) characterized by developmental delays, seizures, and autism.…”

Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges!

“…Even though a genetic etiology may be identified in a small proportion of cases, clinicians should be aware about the approach and yield of genetic tests in autism in view of its high prevalence [4].…”