1. Berry-Kravis E, Levin R, Shah H, Mathur S, Darnell JC, Ouyang B. {{Cholesterol levels in Fragile X syndrome}}. {Am J Med Genet A}. 2014.
Fragile X syndrome (FXS) is associated with intellectual disability and behavioral dysfunction, including anxiety, ADHD symptoms, and autistic features. Although individuals with FXS are largely considered healthy and lifespan is not thought to be reduced, very little is known about the long-term medical health of adults with FXS and no systematically collected information is available on standard laboratory measures from metabolic screens. During the course of follow up of a large cohort of patients with FXS we noted that many patients had low cholesterol and high density lipoprotein (HDL) values and thus initiated a systematic chart review of all cholesterol values present in charts from a clinic cohort of over 500 patients with FXS. Total cholesterol (TC), low density lipoprotein (LDL) and HDL were all significantly reduced in males from the FXS cohort relative to age-adjusted population normative data. This finding has relevance for health monitoring in individuals with FXS, for treatments with cholesterol-lowering agents that have been proposed to target the underlying CNS disorder in FXS based on work in animal models, and for potential biomarker development in FXS. (c) 2014 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
2. Jeremy Willsey A, State MW. {{Autism spectrum disorders: from genes to neurobiology}}. {Curr Opin Neurobiol}. 2014; 30C: 92-9.
Advances in genome-wide technology, coupled with the availability of large cohorts, are finally yielding a steady stream of autism spectrum disorder (ASD) genes carrying mutations of large effect. These findings represent important molecular clues, but at the same time present notable challenges to traditional strategies for moving from genes to neurobiology. A remarkable degree of genetic heterogeneity, the biological pleiotropy of ASD genes, and the tremendous complexity of the human brain are prompting the development of new strategies for translating genetic discoveries into therapeutic targets. Recent developments in systems biology approaches that ‘contextualize’ these genetic findings along spatial, temporal, and cellular axes of human brain development are beginning to bridge the gap between high-throughput gene discovery and testable pathophysiological hypotheses.
Lien vers le texte intégral (Open Access ou abonnement)
3. Storch EA, Lewin AB, Collier AB, Arnold E, De Nadai AS, Dane BF, Nadeau JM, Mutch PJ, Murphy TK. {{A RANDOMIZED CONTROLLED TRIAL OF COGNITIVE-BEHAVIORAL THERAPY VERSUS TREATMENT AS USUAL FOR ADOLESCENTS WITH AUTISM SPECTRUM DISORDERS AND COMORBID ANXIETY}}. {Depress Anxiety}. 2014.
OBJECTIVE: Examine the efficacy of a personalized, modular cognitive-behavioral therapy (CBT) protocol among early adolescents with high-functioning autism spectrum disorders (ASDs) and co-occurring anxiety relative to treatment as usual (TAU). METHOD: Thirty-one children (11-16 years) with ASD and clinically significant anxiety were randomly assigned to receive 16 weekly CBT sessions or an equivalent duration of TAU. Participants were assessed by blinded raters at screening, posttreatment, and 1-month follow-up. RESULTS: Youth randomized to CBT demonstrated superior improvement across primary outcomes relative to those receiving TAU. Eleven of 16 adolescents randomized to CBT were treatment responders, versus 4 of 15 in the TAU condition. Gains were maintained at 1-month follow-up for CBT responders. CONCLUSIONS: These data extend findings of the promising effects of CBT in anxious youth with ASD to early adolescents.
Lien vers le texte intégral (Open Access ou abonnement)
4. van Tongerloo MA, van Wijngaarden PJ, van der Gaag RJ, Lagro-Janssen AL. {{Raising a child with an Autism Spectrum Disorder ‘If this were a partner relationship, I would have quit ages ago’}}. {Fam Pract}. 2014.
BACKGROUND: The aim of the study was to determine the experiences of parents having a child with Autism Spectrum Disorder (ASD) and what kind of support parents would like to receive in primary care. METHODS: Interviews were held with 29 main caregivers, in combination with a standardized questionnaire on quality of life. RESULTS: Virtually all parents experienced tremendous shortcomings as a caregiver of their affected child and therefore felt guilty both towards their child with ASD and towards their other children. Most parents felt the burden was beyond their possibilities. The perceived physical and mental health was rather fair. They also wished that healthcare professionals should properly listen to them and must share their decisions instead of making decisions without them having a say. They mostly appreciated practical tips for every day handling the child. CONCLUSIONS: The burden on parents of raising a child with ASD is too high. Parents like caregivers to listen carefully to their experiences and to facilitate shared decision-making. Outreaching professionals who provide practical assistance are most highly valued.
Lien vers le texte intégral (Open Access ou abonnement)
5. Williamson SL, Ellaway CJ, Peters GB, Pelka GJ, Tam PP, Christodoulou J. {{Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype}}. {Eur J Hum Genet}. 2014.
Rett syndrome (RTT), a neurodevelopmental disorder that predominantly affects females, is primarily caused by variants in MECP2. Variants in other genes such as CDKL5 and FOXG1 are usually associated with individuals who manifest distinct phenotypes that may overlap with RTT. Individuals with phenotypes suggestive of RTT are typically screened for variants in MECP2 and then subsequently the other genes dependent on the specific phenotype. Even with this screening strategy, there are individuals in whom no causative variant can be identified, suggesting that there are other novel genes that contribute to the RTT phenotype. Here we report a de novo deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in identical twins with a RTT-like phenotype. We also demonstrate the reduced expression of Ptpn4 in a Mecp2 null mouse model of RTT, as well as the activation of the PTPN4 promoter by MeCP2. Our findings suggest that PTPN4 should be considered for addition to the growing list of genes that warrant screening in individuals with a RTT-like phenotype.European Journal of Human Genetics advance online publication, 26 November 2014; doi:10.1038/ejhg.2014.249.
