LETTER TO JMG

An aetiological study of 25 mentally retarded adults with autism

C D M van Karnebeek¹, I van Gelderen³, G J Nijhof³, N G Abeling⁴, P Vreken^4,*, E J Redeker¹, A M van Eeghen¹, J M N Hoovers¹, R C M Hennekam^1,2

¹ Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
² Department of Paediatrics, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
³ Institute for the Mentally Retarded "Sherpa" (Eemeroord), Baarn, The Netherlands
⁴ Laboratory of Metabolic Diseases, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

Correspondence to:
Correspondence to:
Dr R C M Hennekam, Department of Paediatrics, Emma Children's Hospital, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;
r.c.hennekam@amc.uva.nl

Keywords: autism; mental retardation; subtelomeric deletions; duplication 15q11-13

Abbreviations: PPAR, peroxisome proliferator activated receptor; PPRE, PPAR response elements; BMI, body mass index; HDL, high density lipoprotein; LDL, low density lipoprotein; AT, ataxia-telangiectasia; LOH, loss of heterozygosity; PWS, Prader-Willi syndrome; NARP, neuropathy ataxia and retinitis pigmentosa; BFNC, benign familial neonatal convulsions; BFIC, benign familial infantile convulsions

Autism is a chronic and severe neuropsychiatric disorder with an early onset, characterised by qualitative impairments of social interaction, deviant development of language and other communicative skills, delayed cognitive development, and restricted repetitive and stereotyped interests and behaviours.^1,2 The prevalence in the general population was estimated at 5.5/10 000 but more recent investigations report higher rates.³ Males are affected more often than females, with a predominance of 3 to 1.⁴ Mental retardation is present in about 75 to 85% of patients with autism,^1,5,6 and almost half of all autistic patients are functionally mute.⁵

The causes and mechanisms underlying autism are heterogeneous, varying from genetic causes, that is, chromosome abnormalities and conditions with Mendelian inheritance such as metabolic disturbances, to infectious causes and teratogenic influences.^7–9 The prevailing view is that autism is caused by a pathophysiological process arising from the interaction of an early environmental insult and a genetic predisposition.¹⁰ However, . . . [Full text of this article]

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