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162 results

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Page 1
Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.
Morotti H, Mastel S, Keller K, Barnard RA, Hall T, O'Roak BJ, Fombonne E. Morotti H, et al. Dev Med Child Neurol. 2021 Feb;63(2):226-232. doi: 10.1111/dmcn.14558. Epub 2020 May 14. Dev Med Child Neurol. 2021. PMID: 32406525 Free article.
INTERPRETATION: Our results do not support an association between NF1 and autism, both at the symptom and disorder levels. WHAT THIS PAPER ADDS: Diagnoses of attention-deficit/hyperactivity disorder (ADHD) were more common in children with neurofibromatosi
INTERPRETATION: Our results do not support an association between NF1 and autism, both at the symptom and disorder levels. WHA …
Phelan-McDermid Syndrome.
Phelan K, Rogers RC, Boccuto L. Phelan K, et al. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301377 Free Books & Documents. Review.
Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. DIAGNOSIS/TESTING: The diagnosis of Phelan-McDermid syndrome is established in a proband with …
Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder
Autism medical comorbidities.
Al-Beltagi M. Al-Beltagi M. World J Clin Pediatr. 2021 May 9;10(3):15-28. doi: 10.5409/wjcp.v10.i3.15. eCollection 2021 May 9. World J Clin Pediatr. 2021. PMID: 33972922 Free PMC article.
Medical comorbidities are more common in children with autism spectrum disorders (ASD) than in the general population. Some genetic disorders are more common in children with ASD such as Fragile X syndrome, Down syndrome, Duchenne muscular dystrophy, neurofibromatosis
Medical comorbidities are more common in children with autism spectrum disorders (ASD) than in the general population. Some genetic d …
An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains.
Smith TF, Kaczorowski JA, Acosta MT. Smith TF, et al. Childs Nerv Syst. 2020 Oct;36(10):2321-2332. doi: 10.1007/s00381-020-04745-w. Epub 2020 Jul 3. Childs Nerv Syst. 2020. PMID: 32617712 Review.
PURPOSE: Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heightened risk for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). ...
PURPOSE: Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heig …
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ. Nix JS, et al. Acta Neuropathol. 2020 Apr;139(4):625-641. doi: 10.1007/s00401-019-02002-2. Epub 2019 Apr 8. Acta Neuropathol. 2020. PMID: 30963251 Free PMC article. Review.
Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. ...A vari
Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of muta
Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study.
Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J. Garg S, et al. Dev Med Child Neurol. 2013 Feb;55(2):139-145. doi: 10.1111/dmcn.12043. Epub 2012 Nov 16. Dev Med Child Neurol. 2013. PMID: 23163236 Free article.
AIM: To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) symptomatology, using a population-based sampling app …
AIM: To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spe …
Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.
Payne JM, Walsh KS, Pride NA, Haebich KM, Maier A, Chisholm A, Glad DM, Casnar CL, Rouel M, Lorenzo J, Del Castillo A, North KN, Klein-Tasman B. Payne JM, et al. Dev Med Child Neurol. 2020 Jul;62(7):813-819. doi: 10.1111/dmcn.14517. Epub 2020 Mar 17. Dev Med Child Neurol. 2020. PMID: 32181506 Free article.
AIM: We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social Responsiveness Scale, Second Edition (SRS-2) and the Social Skills Improvement System - Rating Scales (SSIS-RS), in children with neurofib
AIM: We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social R …
Neurofibromatosis type 1 and autism spectrum disorder.
Garg S, Green J, Leadbitter K, Emsley R, Lehtonen A, Evans DG, Huson SM. Garg S, et al. Pediatrics. 2013 Dec;132(6):e1642-8. doi: 10.1542/peds.2013-1868. Epub 2013 Nov 4. Pediatrics. 2013. PMID: 24190681
OBJECTIVE: To determine the prevalence of autism spectrum disorder (ASD) in Neurofibromatosis Type 1 (NF1). ...Twenty-three cases from the significant ASD group, 16 from moderate ASD, and 8 from non-ASD (total n = 47), invited proportionately by random select …
OBJECTIVE: To determine the prevalence of autism spectrum disorder (ASD) in Neurofibromatosis Type 1 (NF1). ...Twenty-t …
Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.
Lubbers K, Stijl EM, Dierckx B, Hagenaar DA, Ten Hoopen LW, Legerstee JS, de Nijs PFA, Rietman AB, Greaves-Lord K, Hillegers MHJ, Dieleman GC, Mous SE; ENCORE Expertise Center. Lubbers K, et al. Front Psychiatry. 2022 May 16;13:852208. doi: 10.3389/fpsyt.2022.852208. eCollection 2022. Front Psychiatry. 2022. PMID: 35651825 Free PMC article.
OBJECTIVE: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. ...METHODS: We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndr …
OBJECTIVE: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in s …
Genetic and Environmental Contributions to Autism Spectrum Disorder Through Mechanistic Target of Rapamycin.
Sato A, Ikeda K. Sato A, et al. Biol Psychiatry Glob Open Sci. 2021 Sep 1;2(2):95-105. doi: 10.1016/j.bpsgos.2021.08.005. eCollection 2022 Apr. Biol Psychiatry Glob Open Sci. 2021. PMID: 36325164 Free PMC article. Review.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects an individual's reciprocal social interaction and communication ability. Numerous genetic and environmental conditions are associated with ASD, including tuberous sclerosis co
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects an individual's reciprocal social i
162 results