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https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#1
Sudhir Ramkishore Mishra, Mona Shastri, Jaishree Ramesh
Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome...
November 25, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27906199/microduplication-of-the-arid1a-gene-causes-intellectual-disability-with-recognizable-syndromic-features
#2
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA)...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27905923/navigating-the-journey-of-aboriginal-childhood-disability-a-qualitative-study-of-carers-interface-with-services
#3
Anna Green, Penelope Abbott, Patricia Delaney, Patrick Patradoon-Ho, John Delaney, Patricia Mary Davidson, Michelle DiGiacomo
BACKGROUND: The disadvantage experienced by Aboriginal and Torres Strait Islander children with a disability is well recognized. The long term consequences of failing to address disability on health, education and employment underlies the importance of early intervention. Caregivers experience a disproportionate burden and have challenges accessing services. The aim of this study was to describe the carer journey of accessing support and services. METHODS: We conducted in-depth semi-structured interviews with nineteen parents and carers of Aboriginal children aged 0-8 years...
December 1, 2016: BMC Health Services Research
https://www.readbyqxmd.com/read/27902544/academic-achievement-in-adults-with-a-history-of-childhood-attention-deficit-hyperactivity-disorder-a-population-based-prospective-study
#4
Robert G Voigt, Slavica K Katusic, Robert C Colligan, Jill M Killian, Amy L Weaver, William J Barbaresi
OBJECTIVE: Previous research on the developmental course of attention-deficit/hyperactivity disorder (ADHD) is limited by biased clinic-referred samples and other methodological problems. Thus, questions about adult academic outcomes associated with childhood ADHD remain unanswered. Thus, the objective of this study was to describe academic outcomes in adulthood among incident cases of research-identified childhood ADHD versus non-ADHD referents from a population-based birth cohort. METHOD: Young adults with research-identified childhood ADHD (N = 232; mean age 27...
November 23, 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#5
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27900362/de-novo-phip-predicted-deleterious-variants-are-associated-with-developmental-delay-intellectual-disability-obesity-and-dysmorphic-features
#6
Emily Webster, Megan T Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea Lewis, Kyle Retterer, Jane Juusola, Wendy K Chung
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP, have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#7
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27898091/restoring-ureagenesis-in-hepatocytes-by-crispr-cas9-mediated-genomic-addition-to-arginase-deficient-induced-pluripotent-stem-cells
#8
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie Ak Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in developmental disabilities, seizures, spastic diplegia, and sometimes death. Current medical treatments for urea cycle disorders are only marginally effective, and for proximal disorders, liver transplantation is effective but limited by graft availability. Advances in human induced pluripotent stem cell research has allowed for the genetic modification of stem cells for potential cellular replacement therapies...
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27894357/new-insights-into-the-generation-and-role-of-de-novo-mutations-in-health-and-disease
#9
REVIEW
Rocio Acuna-Hidalgo, Joris A Veltman, Alexander Hoischen
Aside from inheriting half of the genome of each of our parents, we are born with a small number of novel mutations that occurred during gametogenesis and postzygotically. Recent genome and exome sequencing studies of parent-offspring trios have provided the first insights into the number and distribution of these de novo mutations in health and disease, pointing to risk factors that increase their number in the offspring. De novo mutations have been shown to be a major cause of severe early-onset genetic disorders such as intellectual disability, autism spectrum disorder, and other developmental diseases...
November 28, 2016: Genome Biology
https://www.readbyqxmd.com/read/27893317/the-relation-between-intellectual-functioning-and-adaptive-behavior-in-the-diagnosis-of-intellectual-disability
#10
Marc J Tassé, Ruth Luckasson, Robert L Schalock
Intellectual disability originates during the developmental period and is characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. In this article, we present a brief history of the diagnostic criteria of intellectual disability for both the DSM-5 and AAIDD. The article also (a) provides an update of the understanding of adaptive behavior, (b) dispels two thinking errors regarding mistaken temporal or causal link between intellectual functioning and adaptive behavior, (c) explains that there is a strong correlational, but no causative, relation between intellectual functioning and adaptive behavior, and (d) asserts that once a question of determining intellectual disability is raised, both intellectual functioning and adaptive behavior are assessed and considered jointly and weighed equally in the diagnosis of intellectual disability...
December 2016: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/27893313/issues-in-the-medication-management-process-in-people-who-have-intellectual-and-developmental-disabilities-a-qualitative-study-of-the-caregivers-perspective
#11
Steven R Erickson, Teresa M Salgado, Xi Tan
People who have intellectual and developmental disabilities (IDD) often rely on caregivers to assist in the medication management process. The aim of this study was to learn from caregivers, who are either family or support staff, what major issues arise throughout the process of managing medication and how these might be addressed. Problems identified by caregivers include (a) prescribers understanding of insurance and agency policies regarding medication utilization; (b) lack of continuity of care and accuracy of the medication record as well as clinical records;...
December 2016: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/27893311/more-job-services-better-employment-outcomes-increasing-job-attainment-for-people-with-idd
#12
Derek Nord
Job search, job placement, and on-the-job supports are valuable services provided to many people with intellectual and developmental disabilities (IDD) to obtain work in the community. Investigating those who were unemployed at the time of service entry, this study seeks to extend understanding about the effect of services. Using extant data, a sample of 39,277 people with IDD using Vocational Rehabilitation services were studied to understand the potential cumulative effects of these job-related services and individual characteristics on job attainment...
December 2016: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/27893289/solitary-active-videogame-play-improves-executive-functioning-more-than-collaborative-play-for-children-with-special-needs
#13
Rachel M Flynn, Nirmaliz Colon
OBJECTIVE: This pilot study examined the impact of playing an active videogame on executive functioning (EF) skills for children with special needs, who typically have lower EF skills. MATERIALS AND METHODS: Acute EF change was measured in 36 children with a range of special needs, including mental health disorders and developmental disabilities. Participants were assigned to one of two active videogame conditions: playing alone and playing with a peer. Two different EF tasks were conducted pre- and postplay...
November 28, 2016: Games for Health
https://www.readbyqxmd.com/read/27892236/1-in-100-babies-the-fetal-alcohol-spectrum-disorder-pathway
#14
Kerry Lyons
Alcohol consumed during pregnancy is the nation's leading preventable cause of developmental disabilities and birth defects. One in 100 babies is estimated to be born with alcohol-related damage, according to the World Health Organization. Fetal alcohol spectrum disorders (FASDs) are more common than autism but are under-diagnosed.
November 23, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27891762/judicial-reliance-on-parental-iq-in-appellate-level-child-welfare-cases-involving-parents-with-intellectual-and-developmental-disabilities
#15
Ella Callow, Munazza Tahir, Maurice Feldman
BACKGROUND: Parents with intellectual and developmental disabilities (IDDs) are over-represented in child welfare cases. Although IQ per se is an invalid indicator of parenting abilities, this study examined the prevalence of judicial consideration of parental IQ test evidence in US appellate cases. METHODS: The present authors conducted Boolean searches of Westlaw Corporation's case database since 1999. The present authors used a six-question checklist to survey the 42 most recent American appellate cases involving termination of parental rights (TPR) decisions that included evidence of parental intellectual and developmental disabilities based on IQ...
November 27, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27891590/bi-allelic-iars-mutations-in-a-child-with-intra-uterine-growth-retardation-neonatal-cholestasis-and-mild-developmental-delay
#16
Naama Orenstein, Karin Weiss, Stephanie N Oprescu, Rivka Shapira, Dvora Kidron, Lina Vanagaite-Basel, Anthony Antonellis, Maximilian Muenke
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#17
J Domínguez-Carral, F J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27889381/do-developmental-milestones-at-4-8-12-and-24-months-predict-iq-at-5-6-years-old-results-of-the-eden-mother-child-cohort
#18
Hugo Peyre, Marie-Laure Charkaluk, Anne Forhan, Barbara Heude, Franck Ramus
RATIONALE: The present study aims: (i) to determine how well developmental milestones at 4, 8, 12 and 24 months may predict IQ at 5-6 years old, (ii) to identify cognitive domains during the first two years that best predict later IQ and (iii) to determine whether children with IQ in the normal range at 5-6 years old may differ from disabled (IQ < 70) and gifted children (IQ > 130) with regard to their early cognitive development. METHOD: The main developmental milestones were collected through self-administered questionnaires rated by parents at 4, 8, 12 and 24 months and through parental questionnaires administered by a trained interviewer and questionnaires completed following a medical examination at 12 months...
November 15, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27888271/investigation-of-the-association-between-motor-stereotypy-behavior-with-fundamental-movement-skills-adaptive-functioning-and-autistic-spectrum-disorder-symptomology-in-children-with-intellectual-disabilities
#19
Joanne L Powell, Lydia Pringle, Matt Greig
Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27885547/identifying-high-ability-children-with-dsm-5-autism-spectrum-or-social-communication-disorder-performance-on-autism-diagnostic-instruments
#20
Megan Foley-Nicpon, Staci L Fosenburg, Kristin G Wurster, Susan G Assouline
This study was a replication of Mazefsky et al.'s (Journal of Autism and Developmental Disabilities 43:1236-1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine whether participants would meet either diagnosis under DSM-5. If the ADOS were administered alone, 62% of individuals diagnosed with ASD would no longer meet criteria under DSM-5; however, when the ADI-R and ADOS scores were combined, 100% of individuals would continue to meet ASD diagnosis...
November 24, 2016: Journal of Autism and Developmental Disorders
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