1. Beurkens NM, Hobson JA, Hobson RP. {{Autism Severity and Qualities of Parent-Child Relations}}. {J Autism Dev Disord};2012 (Jun 7)
The aim of this study was to examine how severity of autism affects children’s interactions (relatedness) and relationships with their parents. Participants were 25 parent-child dyads that included offspring who were children with autism aged from 4 to 14 years. The severity of the children’s autism was assessed using the calibrated severity metric of the Autism Diagnostic Observation Schedule (Gotham et al. in J Autism Dev Disord 39:693-705, 2009). Parent-child dyads were videotaped in 10-min semi-structured play interactions, and qualities of interpersonal relatedness were rated with the Dyadic Coding Scales (Humber and Moss in Am J Orthopsychiatr 75(1):128-141, 2005). Quality of relationships between parents and children were evaluated with a parent self-report measure, the Parent Child Relationship Inventory (Gerard in Parent-Child Relationship Inventory (PCRI) manual. WPS, Los Angeles, 1994). Multivariate regression analysis revealed that severity of autism was inversely related to patterns of parent-child interaction but not to reported quality of parent-child relationship. We consider the implications for thinking about relatedness and relationships among children with autism, and opportunities for intervention.
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2. Castro S, Pinto AI. {{Identification of core functioning features for assessment and intervention in Autism Spectrum Disorders}}. {Disabil Rehabil};2012 (Jun 7)
Purpose: Framed within a biopsychosocial approach, this study aimed to identify the main functionality dimensions that experts in the field of child development and child psychopathology considered as essential in the assessment-intervention process with young children with Autism Spectrum Disorders (ASD), using the International Classification of Functionality, Disability and Health for Children and Youth. Method: The Delphi method was used to obtain consensus among experts regarding the essential functionality features for the rehabilitation of young children with ASD. Therefore, web-based three-round survey was developed. Results: There are more functionality features identified as more essential for the age group 3-6 than from the group birth-2 years of age. 49.4% of activities and participation dimensions were regarded as essential by experts, while only 13.9% of body functions were selected. 39.9% of environmental factors were also marked by experts as essential. Conclusions: Pervasive Developmental Disorders (PDD) are classified in diagnostic manuals-DSM-IV-TR and ICD-10. These classifications are valuable to detect signs/symptoms of health conditions; however, they are often not sufficient to develop individualized interventions. More functional information is needed to complement diagnostic data. The identified functionality dimensions of the ICF-CY complement diagnosis by differentiating relevant functioning aspects in all life domains, according to the biopsychosocial model and should always be addressed in the process of rehabilitation of young children with ASD. [Box: see text].
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3. Clifford T, Minnes P. {{Who Participates in Support Groups for Parents of Children with Autism Spectrum Disorders? The Role of Beliefs and Coping Style}}. {J Autism Dev Disord};2012 (Jun 7)
One hundred forty-nine parents of children with autism spectrum disorders (ASD) completed online questionnaires measuring their beliefs about support groups and ASD, coping style, social support, mood, and use of support groups. Those currently using parent support groups (PSGs) reported using more adaptive coping strategies than both parents who had never used PSGs and parents who had used PSGs in the past. Past PSG users reported that they did not find the groups as beneficial as current users, and parents who had never participated in PSGs reported difficulties with the accessibility of PSGs. Based on the current results, interventions for parents of children with ASD that are focused on meeting the needs identified by participating parents may be most effective.
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4. Davis LK, Maltman N, Mosconi MW, Macmillan C, Schmitt L, Moore K, Francis SM, Jacob S, Sweeney JA, Cook EH. {{Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis}}. {Am J Med Genet A};2012 (Jun 7)
Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries. (c) 2012 Wiley Periodicals, Inc.
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5. Deth RC. {{Genomics, intellectual disability, and autism}}. {N Engl J Med};2012 (Jun 7);366(23):2231-2232; author reply 2232.
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6. Happe FG. {{Some childhood autistic traits are associated with psychotic experiences in early adolescence}}. {Evid Based Ment Health};2012 (Jun 7)
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7. Mandell DS. {{Understanding and addressing the impact of autism on the family}}. {LDI Issue Brief};2012 (Apr-May);17(7):1-4.
Children and adults with autism spectrum disorders (ASDs) have needs that challenge our systems of care. A new study estimates ASDs cost more than $126 billion each year in the U.S.–an amount that reflects both the costs of providing educational and medical services as well as the costs of not intervening early and effectively enough to prevent lifelong disability. This Issue Brief summarizes the implications of childhood autism for parental employment and earnings, and analyzes whether community-based services can reduce costly, psychiatric hospitalizations of children with ASDs.
8. Ozgen H, Hellemann GS, de Jonge MV, Beemer FA, van Engeland H. {{Predictive Value of Morphological Features in Patients with Autism versus Normal Controls}}. {J Autism Dev Disord};2012 (Jun 6)
We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features.
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9. Smeets EE, Pelc K, Dan B. {{Rett Syndrome}}. {Mol Syndromol};2012 (Apr);2(3-5):113-127.
Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression.
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10. Willemsen MH, Rensen JH, van Schrojenstein-Lantman de Valk HM, Hamel BC, Kleefstra T. {{Adult Phenotypes in Angelman- and Rett-Like Syndromes}}. {Mol Syndromol};2012 (Apr);2(3-5):217-234.
BACKGROUND: Angelman- and Rett-like syndromes share a range of clinical characteristics, including intellectual disability (ID) with or without regression, epilepsy, infantile encephalopathy, postnatal microcephaly, features of autism spectrum disorder, and variable other neurological symptoms. The phenotypic spectrum generally has been well studied in children; however, evolution of the phenotypic spectrum into adulthood has been documented less extensively. To obtain more insight into natural course and prognosis of these syndromes with respect to developmental, medical, and socio-behavioral outcomes, we studied the phenotypes of 9 adult patients who were recently diagnosed with 6 different Angelman- and Rett-like syndromes. METHODS: All these patients were ascertained during an ongoing cohort study involving a systematic clinical genetic diagnostic evaluation of over 250, mainly adult patients with ID of unknown etiology. RESULTS: We describe the evolution of the phenotype in adults with EHMT1, TCF4, MECP2, CDKL5, and SCN1A mutations and 22qter deletions and also provide an overview of previously published adult cases with similar diagnoses. CONCLUSION: These data are highly valuable in adequate management and follow-up of patients with Angelman- and Rett-like syndromes and accurate counseling of their family members. Furthermore, they will contribute to recognition of these syndromes in previously undiagnosed adult patients.
