Autism in Adults - recent items

Introduction Compared to parents of adults with other types of disabilities, parents of adults with autism spectrum disorder (ASD) experience worse well-being. Thus, it is crucial to identify the individual, parent and social–environmental correlates of caregiving experiences among parents of adults with ASD. Method For this study, 130 parents of adults with ASD responded to a survey about caregiving satisfaction, self-efficacy and burden. Results Greater future planning and community involvement related to more caregiving satisfaction and increased caregiving self-efficacy, respectively. Less choicemaking of the adult with ASD related to greater caregiving satisfaction and self-efficacy. Maladaptive behaviours and poor health of the adult with ASD related to greater caregiving burden. Conclusions Implications for policymakers, practitioners and future research are discussed. Screening for ASD in adults with ID—moving toward a standard using the DiBAS-R and the ACL 1. C. G. Mutsaerts, 2. M. Heinrich, 3. P. S. Sterkenburg and 4. T. Sappok © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd Journal of Intellectual Disability Research Special Issue: Autism Spectrum Disorder Volume 60, Issue 5, pages 512–522, May 2016 Abstract Background Identification of Autism Spectrum Disorder (ASD) in persons with intellectual disability (ID) is challenging but essential to allow adequate treatment to be given. This study examines whether the combination of two ASD screening instruments specifically developed for persons with ID, namely, the Diagnostic Behavioral Assessment for ASD—Revised (DiBAS-R) and the Autism Checklist (ACL), improves diagnostic accuracy when used in combination compared to the application of the single instrument. Method A clinical sample of adults with ID who are suspected of having ASD (N =148) was assessed using two ID specific screening scales (DiBAS-R and ACL). The diagnostic validity of the single instruments and of their combination was assessed. Results While both instruments showed acceptable diagnostic validity when applied alone (DiBASR/ACL: sensitivity: 75%/91%; specificity: 75%/75%; overall agreement: 75%/83%), specificity increased when two positive screening results were used (88%), and sensitivity increased (95%) when at least one positive screening result was used. Conclusions Different combinations of the ASD screening instruments DiBAS-R and ACL lead to improvements in sensitivity and specificity. The complementary use of the ACL in addition to the sole use of the DiBAS-R improves overall accuracy. Title: Is KCND1 a new gene for X-linked intellectual disability and/or autism spectrum disorder? Citation: Medizinische Genetik, March 2016, vol./is. 28/1(166), 0936-5931 (March 2016) Author(s): Schanze I., Becker J., Schanze D., Harakalova M., Cuppen E., Zenker M. Language: English Abstract: We describe two half-brothers with moderate intellectual disability, delay of motoric skills, and speech delay without development of active language abilities. Both have severe behavioural anomalies including hyperactivity, temper tantrums, autistic behaviour, and sleep disturbance. The two boys were otherwise in good health. No internal malformations were known, and no specific dysmorphic features were present. All growth parameters were in the normal range. High resolution GTG-banding showed normal karyotypes, molecular testing regarding Fragile-X-syndrome and molecular karyotyping (array-CGH) were unremarkable. Because of the evidence for a X-linked form of intellectual disability, but the non-specific findings in the half-brothers the coding sequence of the X chromosome (X-chromosomal exome) was investigated using NGS-technology. We could identify and confirm by Sanger sequencing a novel missense mutation of the KCND1 gene in both affected half-brothers. Several in silico tools assessed the deleterious nature of the variant, MutationsTaster and PolyPhen2 classified the mutation as damaging. The variant was not present in public SNP databases (dbSNP, 1000 Genomes Browser, ExAC). Further segregation analysis in the family showed that the mother of the two boys carried theKCND1mutation, as did the maternal grandmother. KCND1 is one of three members of the KCND/Kv4 family of voltagegated potassium channels. Members of the Kv4 channel family are responsible for native, rapidly inactivating (A-type) currents in neurons and heart and show subtype specific expression patterns with significant overlaps. KCND1 is expressed ubiquitously with highest levels in brain where it is expressed in almost all areas, including cerebral cortex, cerebellum, corpus callosum, hippocampus, amygdala, thalamus, basal ganglia, medulla, and spinal cord. Mutations in the Kv4 family members KCND2 and KCND3 have been correlated with a broad spectrum of neurological disorders. Truncating mutations in KCND2 lead to temporal lobe epilepsy and some rare variants (submicroscopic de novo deletions, translocations, sequence variants) have been identified in individuals with autism and autism spectrum disorder. Lossof function mutations in KCND3 have been identified causing spinocerebellar ataxias (SCA19/22), whereas gain-of function mutations were implicated in Brugada syndrome and atrial fibrillation. Furthermore an in-frame duplication of 9 nucleotides within the voltagesensor domain of KCND3 was described in a patient with mild intellectual disability, seizures and cerebellar ataxia. Considering the identification of a sequence variant in KCND1 in two half brothers with moderate ID and autism spectrum disorder and the correlation of KCND2 and KCND3 with ID and autism we speculate that KCND1 might be a new candidate gene for intellectual disability. To prove the significance of the KCND1 variant functional analysis is pending and further patients with KCND1 variants are desirable. Publication Type: Journal: Conference Abstract