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Spectrum: Autism Research News

Tag: 22q13

December 2013

Drug fixes cellular defects in autism-related disorder

by  /  2 December 2013

A new stem-cell model of Phelan-McDermid syndrome points to a possible treatment for the rare autism-related disorder, according to a study published in Nature.

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July 2013

Study catalogs features of Phelan-McDermid syndrome

by  /  11 July 2013

The majority of people lacking a functional copy of the SHANK3 gene have both autism and severe intellectual disability, according to a study published 11 June in Molecular Autism.

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September 2012

Cognition and behavior: Regression marks autism syndrome

by  /  12 September 2012

Characteristic symptoms of Phelan-McDermid syndrome — a disorder caused by the loss of the 22q13.3 chromosomal region — may include bipolar disorder and a sudden loss of skills during adulthood, according a study published in June in Molecular Syndromology.

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July 2012

In Phelan-McDermid, motor neurons show irregularities

by  /  30 July 2012

Motor neurons derived from individuals with Phelan-McDermid syndrome, a rare autism-related disorder, form abnormal connections with muscle cells. The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.

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Expression data links gene candidates to autism

by  /  11 July 2012

Identifying genetic variants that affect the expression of other genes can enhance traditional gene association analyses and highlight candidate risk factors for autism, according to a study published 16 May in Molecular Autism.

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Growth factor

by  /  3 July 2012

A small clinical trial at the Seaver Autism Center at Mount Sinai aims to test whether an existing drug, the growth factor IGF-1, will help treat some of the core symptoms of autism in children with a specific genetic mutation.

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June 2012

Genetics: Analysis identifies new autism candidate regions

by  /  19 June 2012

An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.

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November 2011

Genetics: Size of 22q13 deletion predicts clinical features

by  /  4 November 2011

In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.

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October 2011

Growth factor improves autism symptoms in mice

by  /  19 October 2011

Mice lacking a copy of SHANK3, a gene associated with autism and intellectual disability, show marked improvements in brain signaling after being treated with insulin-like growth factor 1, according to unpublished findings presented Saturday at the International Congress of Human Genetics in Montreal, Canada.

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June 2011

Ricardo Dolmetsch: Regenerating the cells of autism

by  /  23 June 2011

The ever-curious and energetic Ricardo Dolmetsch is taking skin cells from individuals with various types of autism and turning them into neurons in the lab. The approach could reveal the cellular basis of the disorder and point to new treatments.

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