1. Gallagher S, Phillips AC, Lee H, Carroll D. {{The Association Between Spirituality and Depression in Parents Caring for Children with Developmental Disabilities: Social Support and/or Last Resort}}. {J Relig Health};2014 (Feb 16)
Associations between spirituality and depression were examined in parents of children with developmental disabilities using both quantitative and qualitative methodology. Spirituality was positively associated with depression, whereas social support was negatively related; parents with higher spiritual beliefs and lower levels of support had higher depression scores. Themes emerging from interviews were spiritual/religious coping as a way of dealing with difficulty, as a last resort, and as a form of release from their situation. Associations between spirituality and depression in these parents are more complex than previously thought.
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2. Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. {{A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP}}. {Nat Genet};2014 (Feb 16)
Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities, a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile-X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in next-generation sequencing, for the large majority of cases no molecular diagnosis can be established. Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD-associated genes known to date.
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3. Kulage KM, Smaldone AM, Cohn EG. {{How Will DSM-5 Affect Autism Diagnosis? A Systematic Literature Review and Meta-analysis}}. {J Autism Dev Disord};2014 (Feb 16)
We conducted a systematic review and meta-analysis to determine the effect of changes to the Diagnostic and Statistical Manual (DSM)-5 on autism spectrum disorder (ASD) and explore policy implications. We identified 418 studies; 14 met inclusion criteria. Studies consistently reported decreases in ASD diagnosis (range 7.3-68.4 %) using DSM-5 criteria. There were statistically significant pooled decreases in ASD [31 % (20-44), p = 0.006] and DSM-IV-TR subgroups of Autistic disorder [22 % (16-29), p < 0.001] and pervasive developmental disorder-not otherwise specified (PDD-NOS) [70 % (55-82), p = 0.01]; however, Asperger’s disorder pooled decrease was not significant [70 % (26-94), p = 0.38]. DSM-5 will likely decrease the number of individuals diagnosed with ASD, particularly the PDD-NOS subgroup. Research is needed on policies regarding services for individuals lacking diagnosis but requiring assistance.
