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autism ASD ADHD ID

Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Eva Billstedt, Henrik Anckarsäter, Märta Wallinius, Björn Hofvander
Neurodevelopmental disorders (Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), tic disorder, intellectual disability (ID)), in prison populations have received increased attention but the focus has generally been on one single condition leaving out the global picture. This study assessed the prevalence and overlap of neurodevelopmental disorders (NDD) in a consecutive cohort (n=270) of young adult male offenders (age 18-25 years), sentenced for "hands-on" violent offences and serving prison time in Swedish prisons...
June 2017: Psychiatry Research
Catherine H Choi, Brian P Schoenfeld, Aaron J Bell, Joseph Hinchey, Cory Rosenfelt, Michael J Gertner, Sean R Campbell, Danielle Emerson, Paul Hinchey, Maria Kollaros, Neal J Ferrick, Daniel B Chambers, Steven Langer, Steven Sust, Aatika Malik, Allison M Terlizzi, David A Liebelt, David Ferreiro, Ali Sharma, Eric Koenigsberg, Richard J Choi, Natalia Louneva, Steven E Arnold, Robert E Featherstone, Steven J Siegel, R Suzanne Zukin, Thomas V McDonald, Francois V Bolduc, Thomas A Jongens, Sean M J McBride
Fragile X is the most common monogenic disorder associated with intellectual disability (ID) and autism spectrum disorders (ASD). Additionally, many patients are afflicted with executive dysfunction, ADHD, seizure disorder and sleep disturbances. Fragile X is caused by loss of FMRP expression, which is encoded by the FMR1 gene. Both the fly and mouse models of fragile X are also based on having no functional protein expression of their respective FMR1 homologs. The fly model displays well defined cognitive impairments and structural brain defects and the mouse model, although having subtle behavioral defects, has robust electrophysiological phenotypes and provides a tool to do extensive biochemical analysis of select brain regions...
2016: Frontiers in Behavioral Neuroscience
Ayse Kilincaslan, Tuba Duzman Mutluer, Basak Pasabeyoglu, Mustafa Deniz Tutkunkardas, Nahit Motavalli Mukaddes
OBJECTIVES: This naturalistic, retrospective study investigated the effects of atomoxetine (ATX) on attention-deficit/hyperactivity disorder (ADHD) symptoms and autistic features in children with autism spectrum disorders (ASDs) and intellectual disability (ID). METHODS: Participants (n = 37, age range 6-17 years, mean: 10.16 ± 3.60) were assessed at baseline, 4th and 12th weeks using Clinical Global Impressions (CGI) scales, DSM-IV-based ADHD-rating scale (ADHD-RS), and amended Turkish version of Aberrant Behavior Checklist (ABC)...
November 2016: Journal of Child and Adolescent Psychopharmacology
Klaus-Peter Lesch
The categorisation of neurodevelopmental and psychiatric disorders by clinical syndromes, rather than by aetiology, continues to obstruct progress in biomarker identification as well as innovative drug development and effective treatment in general. There is a decisive move to think of neurodevelopmental disorders as a spectrum rather than discrete categorical entities. We might call them neurodevelopmental spectrum disorders (NSDs) ranging from intellectual disability (ID) to autism (ASD), and attention-deficit/hyperactivity disorder (ADHD) (Kiser, Rivero, & Lesch, )...
June 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
S Chandler, P Howlin, E Simonoff, J Kennedy, G Baird
BACKGROUND: Formal IQ tests are an important part of the diagnostic and needs-based assessment process for children with neurodevelopmental disorders. However, resources for such assessments are not always available. It has been suggested that parental estimates of their child's developmental age could serve as a proxy IQ when formal measures are unavailable. METHOD: Parental estimates of their child's developmental age were converted to a developmental quotient (DQ) in 197 children with Autism Spectrum Disorder (ASD) aged 4-9 years, and 108 children with ADHD and intellectual disability (ADHD + ID) aged 7-15 years...
July 2016: Child: Care, Health and Development
Laura A Schieve, Lin H Tian, Kristin Rankin, Michael D Kogan, Marshalyn Yeargin-Allsopp, Susanna Visser, Deborah Rosenberg
PURPOSE: Although previous studies demonstrate associations between adverse perinatal outcomes and developmental disabilities (DDs), study of population impacts is limited. METHODS: We computed relative risks adjusted (aRRs) for sociodemographic factors and component and summary population attributable fractions (PAFs) for associations between very low birth weight (VLBW, all preterm births), moderately low birth weight (MLBW) + Preterm, MLBW at term, and normal birth weight (NBW) + Preterm and seven DDs (cerebral palsy [CP], autism spectrum disorder [ASD], intellectual disability [ID], behavioral-conduct disorders, attention-deficit-hyperactivity disorder [ADHD], learning disability [LD], and other developmental delay) among children aged 3-17 years in the 2011-2012 National Survey of Children's Health...
April 2016: Annals of Epidemiology
Michael F Wells, Ralf D Wimmer, L Ian Schmitt, Guoping Feng, Michael M Halassa
Developmental disabilities, including attention-deficit hyperactivity disorder (ADHD), intellectual disability (ID), and autism spectrum disorders (ASD), affect one in six children in the USA. Recently, gene mutations in patched domain containing 1 (PTCHD1) have been found in ~1% of patients with ID and ASD. Individuals with PTCHD1 deletion show symptoms of ADHD, sleep disruption, hypotonia, aggression, ASD, and ID. Although PTCHD1 is probably critical for normal development, the connection between its deletion and the ensuing behavioural defects is poorly understood...
April 7, 2016: Nature
J McCarthy, E Chaplin, L Underwood, A Forrester, H Hayward, J Sabet, S Young, P Asherson, R Mills, D Murphy
BACKGROUND: Previous studies have found high rates of attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and intellectual disability (ID) within the criminal justice system (CJS). However, little is understood about prisoners with neurodevelopmental disorders and difficulties (NDD) or their needs. This study aimed to identify prisoners with NDD and compare their characteristics with prisoners without NDD on a range of socio-demographic and social functioning measures...
March 2016: Journal of Intellectual Disability Research: JIDR
Kacie N Riley, Lisa M Catalano, John A Bernat, Stacie D Adams, Donna M Martin, Seema R Lalani, Ankita Patel, Rachel D Burnside, Jeffrey W Innis, M Katharine Rudd
Copy number variation (CNV) in the long arm of chromosome 2 has been implicated in developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders. Here we describe 14 new subjects with recurrent deletions and duplications of chromosome 2q11.2, 2q13, and 2q11.2-2q13. Though diverse phenotypes are associated with these CNVs, some common features have emerged. Subjects with 2q11.2 deletions often exhibit DD, speech delay, and attention deficit hyperactivity disorder (ADHD), whereas those with 2q11...
November 2015: American Journal of Medical Genetics. Part A
Christian D Pulcini, James M Perrin, Amy J Houtrow, John Sargent, Amy Shui, Karen Kuhlthau
OBJECTIVE: To examine the prevalence trends and coexisting conditions in attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID) in the pediatric Supplemental Security Income (SSI) population and general population. METHODS: The Social Security Administration (SSA) provided data on primary and secondary diagnoses of children qualifying for SSI for years 2000 to 2011. We compared SSA data with 2000-2011 National Health Interview Survey data on the prevalence of mental health diagnoses among children in the general population living between 0 and 199% of the federal poverty line...
July 2015: Academic Pediatrics
Thomas Bourgeron
ESSENCE refers to early symptomatic syndromes eliciting neurodevelopmental clinical examinations. It includes a broad range of early onset neurodevelopmental disorders affecting more than 10% of children before 5 years of age. ESSENCE includes among others attention deficit hyperactivity disorder (ADHD), intellectual disability (ID) and autism spectrum disorders (ASD). Some degree of disability is the rule rather than the exception. The causes are heterogeneous ranging from extreme social deprivation, pre- and perinatal risk factors, genetic and metabolic diseases, immune and infectious disorders, nutritional factors, physical trauma, and postnatal toxic and environmental factors (and combinations/interactions of some or several of these)...
2016: Nordic Journal of Psychiatry
Jie Hu, Malini Sathanoori, Sally Kochmar, Meron Azage, Susan Mann, Suneeta Madan-Khetarpal, Amy Goldstein, Urvashi Surti
A 7-year-old female with developmental delay (DD), autism spectrum disorder (ASD), intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), and seizures was referred to our laboratory for oligomicroarray analysis. The analysis revealed a 540 kb microdeletion in the chromosome 8q24.3 region (143,610,058-144,150,241) encompassing multiple genes. Two siblings of the proband were also analyzed. The proband's older sister with DD, seizures, and ASD has a 438 kb intragenic microdeletion of the GPHN gene in the chromosome 14q23...
August 2015: American Journal of Medical Genetics. Part A
Dominik P Kiser, Olga Rivero, Klaus-Peter Lesch
BACKGROUND AND SCOPE: Neurodevelopmental disorders (NDDs) are defined by a wide variety of behavioural phenotypes, psychopathology and clinically informed categorical classifications. Diagnostic entities include intellectual disability (ID), the autism spectrum (ASD) and attention-deficit/hyperactivity disorder (ADHD). The aetiopathogenesis of these conditions and disorders involves an interaction between both genetic and environmental risk factors on the developmental trajectory. Despite their remarkable genetic heterogeneity and complexity of pathophysiological mechanisms, NDDs display an overlap in their phenotypic features, a considerable degree of comorbidity as well as sharing of genetic and environmental risk factors...
March 2015: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Reymundo Lozano, Carolina Alba Rosero, Randi J Hagerman
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles of dynamic mutations include the full mutation (> 200 CGG repeats), premutation (55-200 CGG repeats) and the gray zone mutation (45-54 CGG repeats). Premutation carriers are common in the general population with approximately 1 in 130-250 females and 1 in 250-810 males, whereas the full mutation and Fragile X syndrome (FXS) occur in approximately 1 in 4000 to 1 in 7000...
November 2014: Intractable & Rare Diseases Research
Colin Reilly, Patricia Atkinson, Krishna B Das, Richard F M C Chin, Sarah E Aylett, Victoria Burch, Christopher Gillberg, Rod C Scott, Brian G R Neville
BACKGROUND: In addition to recurrent epileptic seizures, children with epilepsy can have coexisting cognitive and behavioral difficulties but the spectrum and prevalence of such difficulties are uncertain. METHODS: The Children with Epilepsy in Sussex Schools study is a prospective, community-based study involving school-aged children (5–15 years) with active epilepsy in a defined geographical area in the United Kingdom. Participants underwent comprehensive psychological assessment, including measures of cognition, behavior, and motor functioning...
June 2014: Pediatrics
Wen-Hui Tsai, Yea-Shwu Hwang, Te-Yu Hung, Shih-Feng Weng, Shio-Jean Lin, Wen-Tsan Chang
Mechanical ventilation for preterm infants independently contributes to poor neurodevelopmental performance. However, few studies have investigated the association between the duration of mechanical ventilation and the risk for various developmental disorders in extremely low birth weight (ELBW) (<1000g) infants. Using a large nationwide database, we did a 10-year retrospective follow-up study to explore the effect of mechanical ventilation on the incidence of cerebral palsy (CP), autism spectrum disorder (ASD), intellectual disability (ID), and attention-deficit/hyperactivity disorder (ADHD) in ELBW infants born between 1998 and 2001...
July 2014: Research in Developmental Disabilities
Lotta Höglund Carlsson, Fritjof Norrelgen, Liselotte Kjellmer, Joakim Westerlund, Christopher Gillberg, Elisabeth Fernell
OBJECTIVES: To analyze cooccurring disorders and problems in a representative group of 198 preschool children with autism spectrum disorders (ASD) who had had interventions at a specialized habilitation center. METHODS: Parents and children were seen by a research team. Data were based on parental interviews, pediatric assessments, and tests of the child. Information on autistic symptoms, general cognitive function, speech and language, motor function, epilepsy, vision, hearing, activity level, behavior, and sleep was collected...
2013: TheScientificWorldJournal
Georgina Peacock, Djesika Amendah, Lijing Ouyang, Scott D Grosse
OBJECTIVE: Children with autism spectrum disorders (ASDs) often have co-occurring conditions, but little is known on the effect of those conditions on their medical care cost. Medical expenditures attributable to ASDs among Medicaid-enrolled children were calculated, and the effects of 3 commonly co-occurring conditions--intellectual disability (ID), attention deficit/hyperactivity disorder (ADHD), and epilepsy-on those expenditures were analyzed. METHODS: Using MarketScan Medicaid Multi-State Databases (2003-2005) and the International Classification of Disease, Ninth Revision, children with ASD were identified...
January 2012: Journal of Developmental and Behavioral Pediatrics: JDBP
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