Asperger's Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Asperger's Syndrome, including details on symptoms, diagnosis, treatment, medication.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R809, Houston, TX, 77030, USA.

We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb microduplication involving a portion of the minimal deletion critical region in a 15-year-old male with short stature, mild mental retardation, attention deficit hyperactivity disorder, Asperger syndrome, decreased joint mobility, digital abnormalities, and characteristic facial features. Some of these features are shared with a recently reported case with a 15q24 microduplication involving the minimal deletion critical region. We also report two siblings and their mother with duplication adjacent and distal to this region exhibiting mild developmental delay, hypotonia, tapering fingers, characteristic facial features, and prominent ears. The deletion and duplication breakpoints were mapped by array comparative genomic hybridization and the genomic structure in 15q24 was analyzed further. Surprisingly, in addition to the previously recognized three low-copy repeat clusters (BP1, BP2, and BP3), we identified two other paralogous low-copy repeat clusters that likely mediated the formation of alternative sized 15q24 genomic rearrangements via non-allelic homologous recombination.

Published 26 June 2009 in Hum Genet.
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Articles on Asperger's Syndrome published 26 June 2009:

Obsessive-compulsive traits in children and adolescents with Asperger syndrome.   Eur Child Adolesc Psychiatry.

The objective of this study is to examine the occurrence and characteristic features of obsessive-compulsive behaviours in children and adolescents with Asperger syndrome (AS), with respect to a matched obsessive compulsive disorder group (OCD) and a typically developing control group (CG). For this purpose, 60 subjects (20 OCD; 18 AS; 22 CG), aged 8-15 years, matched for age, gender and IQ were compared. AS and OCD patients were diagnosed according to the DSM-IV-TR criteria. The Autism ... [Abstract] [Full-text]

Articles on Asperger's Syndrome published 25 June 2009:

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.   Am J Med Genet A, 149(7): 1407-14.

Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long-range enhancers required for SHOX transcription. We now ... [Abstract] [Full-text]

Articles on Asperger's Syndrome published 23 June 2009:

Qualitative or Quantitative Differences Between Asperger's Disorder and Autism? Historical Considerations.   J Autism Dev Disord.

The histories of autism and Asperger's Disorder (AD), based on original contributions by Kanner and Asperger, are reviewed in relation to DSM-IV diagnostic criteria. Their original articles appear to have influenced the distinction between AD and autism made in the DSM-IV. Based on up-to-date empirical research, however, it appears that AD and autism are not qualitatively distinct disorders, but are different quantitative manifestations of the same disorder. The differences between AD and ... [Abstract] [Full-text]

A synaptic trek to autism.   Curr Opin Neurobiol.

Autism spectrum disorders (ASD) are diagnosed on the basis of three behavioral features namely deficits in social communication, absence or delay in language, and stereotypy. The susceptibility genes to ASD remain largely unknown, but two major pathways are emerging. Mutations in TSC1/TSC2, NF1, or PTEN activate the mTOR/PI3K pathway and lead to syndromic ASD with tuberous sclerosis, neurofibromatosis, or macrocephaly. Mutations in NLGN3/4, SHANK3, or NRXN1 alter synaptic function and lead to ... [Abstract] [Full-text]

Articles on Asperger's Syndrome published 22 June 2009:

Brief Report: Inhibitory Control of Socially Relevant Stimuli in Children with High Functioning Autism.   J Autism Dev Disord.

The current study explored whether inhibitory control deficits in high functioning autism (HFA) emerged when socially relevant stimuli were used and whether arousal level affected the performance. A Go/NoGo paradigm, with socially relevant stimuli and varying presentation rates, was applied in 18 children with HFA (including children with autism or Asperger syndrome) and 22 typically developing children (aged 8-13 years). Children with HFA did not show inhibitory control deficits compared to ... [Abstract] [Full-text]

Articles on Asperger's Syndrome published 16 June 2009:

Stereotypes of autism.   Philos Trans R Soc Lond B Biol Sci, 364(1522): 1475-80.

In their landmark papers, both Kanner and Asperger employed a series of case histories to shape clinical insight into autistic disorders. This way of introducing, assessing and representing disorders has disappeared from today's psychiatric practice, yet it offers a convincing model of the way stereotypes may build up as a result of representations of autism. Considering that much of what society at large learns on disorders on the autism spectrum is produced by representations of autism in ... [Abstract] [Full-text]

How does visual thinking work in the mind of a person with autism? A personal account.   Philos Trans R Soc Lond B Biol Sci, 364(1522): 1437-42.

My mind is similar to an Internet search engine that searches for photographs. I use language to narrate the photo-realistic pictures that pop up in my imagination. When I design equipment for the cattle industry, I can test run it in my imagination similar to a virtual reality computer program. All my thinking is associative and not linear. To form concepts, I sort pictures into categories similar to computer files. To form the concept of orange, I see many different orange objects, such as ... [Abstract] [Full-text]

Articles on Asperger's Syndrome published 15 June 2009:

Working memory in children with developmental disorders.   J Learn Disabil, 42(4): 372-82.

The aim of the present study was to directly compare working memory skills across students with different developmental disorders to investigate whether the uniqueness of their diagnosis would impact memory skills. The authors report findings confirming differential memory profiles on the basis of the following developmental disorders: Specific Language Impairment, Developmental Coordination Disorder (DCD), Attention-Deficit/Hyperactivity Disorder, and Asperger syndrome (AS). Specifically, ... [Abstract] [Full-text]

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