Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Identification and evaluation of children with autism spectrum disorders

CP Johnson, SM Myers - Pediatrics, 2007 - publications.aap.org
Autism spectrum disorders are not rare; many primary care pediatricians care for several
children with autism spectrum disorders. Pediatricians play an important role in early …

[HTML][HTML] Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

GB Schaefer, NJ Mendelsohn… - Genetics in …, 2013 - Elsevier
The autism spectrum disorders are a collective of conditions that have in common impaired
socialization and communication in association with stereotypic behaviors. The reported …

[PDF][PDF] Abnormal child psychology

EJ Mash, DA Wolfe - 2005 - academia.edu
Писать второе издание учебника—одно удовольствие (по сравнению с первым!). Мы
вполне довольны теплым приемом, оказанным первому изданию за короткое время …

[HTML][HTML] The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

V Shashi, A McConkie-Rosell, B Rosell, K Schoch… - Genetics in …, 2014 - nature.com
Purpose: The purpose of this study was to assess the diagnostic yield of the traditional,
comprehensive clinical evaluation and targeted genetic testing, within a general genetics …

Autism spectrum disorders: concurrent clinical disorders

X Ming, M Brimacombe, J Chaaban… - Journal of child …, 2008 - journals.sagepub.com
Individuals with autism spectrum disorder are heterogeneous in clinical presentation,
concurrent disorders, and developmental outcomes. This study characterized the clinical co …

[HTML][HTML] Diagnosticando o transtorno autista: aspectos fundamentais e considerações práticas

M Silva, JA Mulick - Psicologia: ciência e profissão, 2009 - SciELO Brasil
Tendo como base modelos de prática diagnóstica implementados em outros países, o
objetivo do artigo é oferecer uma revisão geral acerca do que vem a ser o transtorno autista …

Autism: a review of the state of the science for pediatric primary health care clinicians

WJ Barbaresi, SK Katusic… - Archives of pediatrics & …, 2006 - jamanetwork.com
Autism is a complex neurodevelopmental disorder characterized by impaired reciprocal
social interaction, impaired communication, and restricted, repetitive, or stereotyped …

How to diagnose autism

CJ Dover, A Le Couteur - Archives of disease in childhood, 2007 - adc.bmj.com
Over the past two decades, there has been an explosion of interest in autism and autism
spectrum disorders. Knowledge and awareness of the condition has grown exponentially at …

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

GE Herman, E Butter, B Enrile… - American journal of …, 2007 - Wiley Online Library
''Autism spectrum disorders''(ASDs) are a heterogeneous and common group of
developmental disorders. Affected infants and children demonstrate severe and persistent …