Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry
Table 1
Partial list of genetic syndromes associated with autism.
Fragile X syndrome (FMR1 gene)
Apert syndrome
Rett syndrome (MECP2 gene)
Williams syndrome
Angelman and Prader-Willi syndromes
Joubert syndrome
(15q11-q13 deletions or rearrangements)
Noonan syndrome
Smith-Lemli-Opitz syndrome
Down syndrome
Smith-Magenis syndrome (17p11.2 deletion)
Turner syndrome
Tuberous sclerosis
Neurofibromatosis
PTEN-gene-mutation-associated disorders
Myotonic dystrophy
(Cowden and Bannayan-Riley-Ruvalcaba syndrome with extreme macrocephaly)
Duchenne muscular dystrophy
Shprintzen/velocardiofacial syndrome
Moebius sequence
(22q11 deletion)
Cohen syndrome
Sotos syndrome
Oculoauriculovertebral spectrum
CHARGE syndrome
Untreated or poorly treated phenylketonuria (PKU)
Hypomelanosis of Ito
Adenylate succinase deficiency
De Lange syndrome
Mitochondrial dysfunction
Extracted and modified from G.B. Schaefer and N.J. Mendelsohn, “Genetics evaluation for the etiologic diagnosis of autism spectrum disorders,” Genetics in Medicine, vol. 10, pp 4–12, 2008.
