1. Bishop-Fitzpatrick L, Hong J, Smith LE, Makuch RA, Greenberg JS, Mailick MR. {{Characterizing Objective Quality of Life and Normative Outcomes in Adults with Autism Spectrum Disorder: An Exploratory Latent Class Analysis}}. {Journal of autism and developmental disorders}. 2016 May 20.
This study aims to extend the definition of quality of life (QoL) for adults with autism spectrum disorder (ASD, n = 180, ages 23-60) by: (1) characterizing the heterogeneity of normative outcomes (employment, independent living, social engagement) and objective QoL (physical health, neighborhood quality, family contact, mental health issues); and (2) identifying predictors of positive normative outcomes and good objective QoL. Findings of an exploratory latent class analysis identified three groups of adults with ASD-Greater Dependence, Good Physical and Mental Health, and Greater Independence. Findings indicate that better daily living skills, better executive function, and more maternal warmth are associated with assignment to better outcome groups. Findings have implications for interventions designed to enhance achievement of normative outcomes and objective QoL.
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2. Fitzgerald J, Gallagher L, McGrath J. {{Widespread Disrupted White Matter Microstructure in Autism Spectrum Disorders}}. {Journal of autism and developmental disorders}. 2016 May 20.
Autism Spectrum Disorders (ASDs) are characterised by impaired social communication and restricted repetitive behaviours. Researchers posit that these core features may be underpinned by disrupted structural connectivity. A tract based spatial statistical analysis of diffusion MRI data was performed to investigate white matter organisation (an indication of structural connectivity) in a well-defined cohort of 45 ASD and 45 age and IQ matched control participants. Aberrant structural connectivity characterised by reduced fractional anisotropy was observed in several fiber pathways in ASD relative to controls. Disrupted white matter organisation was associated with social deficits and restricted repetitive behaviours in ASD. Abnormal structural connectivity is apparent in ASD and may be linked to the core behavioural features of the disorder.
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3. Green Snyder L, D’Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E, Simons VIPc. {{Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication}}. {Journal of autism and developmental disorders}. 2016 May 21.
The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.
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4. Limberg K, Gruber K, Noterdaeme M. {{The German version of the Child Behavior Checklist 1.5-5 to identify children with a risk of autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2016 May 22.
A long delay between the first registered symptoms of autism spectrum disorder and a final diagnosis has been reported. The reasons for this are the spare use of specialized autism instruments, missing clinical expertise, and the late referral to specialized centers in primary care. Previous studies recommending the Child Behavior Checklist 1.5-5 for screening have requested additional research. A total of 183 children aged 25-71 months participated in this study. The Child Behavior Checklist scales of 80 children with autism spectrum disorder were compared with 103 children diagnosed with other psychiatric disorders. In the logistic regression analysis, the Withdrawn and Pervasive Developmental Problems Child Behavior Checklist scales with a significant predictive value of risk for an autism spectrum disorder diagnosis were identified. The optimal cutoff points T = 64.5 on the Pervasive Developmental Problems scale (area under the curve = 0.781, sensitivity = 0.83, specificity = 0.60, positive predictive value = 0.62, negative predictive value = 0.82, odds ratio = 7) and T = 60.5 on the Withdrawn scale (area under the curve = 0.809, sensitivity = 0.88, specificity = 0.63, positive predictive value = 0.65, negative predictive value = 0.87, odds ratio = 12) were evaluated in the receiver operating characteristics analysis. The present study confirms the utility of the German version of the Child Behavior Checklist 1.5-5 as a level 1 screening tool to identify children with a risk of autism spectrum disorder; however, a risk of over-identifying should be considered. The Child Behavior Checklist 1.5-5 can complement the pediatric examination as a quick and cost-effective questionnaire.
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5. Schonewolf-Greulich B, Stahlhut M, Larsen JL, Syhler B, Bisgaard AM. {{Functional abilities in aging women with Rett syndrome – the Danish cohort}}. {Disability and rehabilitation}. 2016 May 20:1-8.
Rett syndrome (RTT) is a neurodevelopmental disorder, which mainly affects females and results in multiple disabilities. Many clinical descriptions of the symptoms and functional abilities have been made medically, though mainly in children with RTT. Previous reports have established that even though the syndrome causes severe psychomotor disability, women with RTT can live long into adulthood. PURPOSE: We aim to describe what to expect from aging women with RTT regarding some of the basic functional abilities that are used in daily activities and that could have an impact on quality of life in these women. METHODS: A team of two medical doctors, a physiotherapist and an educational psychological adviser, performed clinical evaluations of 27 women with RTT in Denmark above 30 years of age and confirmed MECP2 mutation. RESULTS: We found that 63% of the women were able to walk outside their homes and only 11% were not able to walk at all. However, 67% could not transfer from sitting to standing position without support. There was profound difficulties communicating, but 85.1% of the women could either consistently point with their hand or eyes to things of their interest. CONCLUSIONS: Women with RTT are very dependent on caregivers who maintain and rehabilitate their functional abilities. They can often walk short distances unassisted, but do have trouble transferring and thus getting up from a chair on their own. They have severe problems communicating and they often perform subtle signs that can be difficult to recognize. Implications for rehabilitation 3/4 of aging RTT women are household ambulators – daily training of motor functions and focus on assisting the initiation of movements are needed lifelong to maintain walking ability and participation in daily activities More than half of aging women with RTT can grab on to things – persons with hand function should be motivated to use this ability in the context of eating Communication is a difficult task especially for the aging RTT women – Communicative signs, their meaning and how to react to them should be written down for every woman in an easy accessible way to all caregivers The majority of aging RTT women can point out things of interest – they should be given the opportunity to participate in choice making.
