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Early development of infants with neurofibromatosis type 1: a case series. ...
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Early development of infants with neurofibromatosis type 1: a case series.
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Early development of infants with neurofibromatosis type 1: A case series
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Kolesnik, Anna May; Jones, Emily Jane Harrison*; Garg, Shruti; Green, Jonathan; Charman, Tony; Johnson, Mark Henry; Baron-Cohen, Simon; Begum-Ali, Jannath; Bolton, Patrick; Cheung, Celeste; Dafner, Leila; Davies, Kim; Elsabbagh, Mayada; Fernandes, Janice; Fish, Laurel; Gammer, Isobel; Greensmith, Marian; Gliga, Teodora; Kalwarowsky, Sarah; Liew, Michelle; Pasco, Greg; Pickles, Andrew; Ribeiro, Helena; Salomone, Erica; Taylor, Chloe; Tucker, Leslie; Wass, Sam; Burkitt-Wright, Emma; Evans, D. Gareth; Vassallo, Grace; Eelloo, Judith; West, Siobhan; Howard, Elizabeth; Hupton, Eileen; Huson, Sue; Lewis, Lauren; Tricker, Karen; Dobbie, Angus; Drimer, Ruth; Sharif, Saghira Malik; Baralle, Diane; Redman, Carolyn; Sharif, Saba; Symth, Carolyn; Lam, Wayne; Bradbury, Alyson; Harrower, Neil; Quarrell, Oliver; Bethell, Helen; Jones, Rachel; Musson, Susan; Prem, Catherine; Splitt, Miranda; Horridge, Karen; Steiger, Christine; Jim, Carly. - 2017
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Abstract:
Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament. Results: Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants. Conclusions: Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder.
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Keyword:
Activities of Daily Living; Adaptive functioning; Autism; Autism Spectrum Disorder; Cognition; Communication; Development; Developmental Biology; Developmental Neuroscience; Female; Humans; Infant; Language Development Disorders; Male; Molecular Biology; Motor Activity; Neurofibromatosis 1; NF1; Prospective longitudinal; Prospective Studies; Psychiatry and Mental Health; Risk; Sensory processing; Social engagement; Temperament; Translational neurodevelopment
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URL: http://hdl.handle.net/2318/1669415 https://doi.org/10.1186/s13229-017-0178-0 http://www.molecularautism.com/
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Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1
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Avaliação do processamento auditivo na Neurofibromatose tipo 1 Auditory processing evaluation in Neurofibromatosis type 1
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In: Revista da Sociedade Brasileira de Fonoaudiologia, Vol 15, Iss 4, Pp 604-608 (2010) (2010)
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Magnetic Resonance Spectroscopy Imaging and Function Magnetic Resonance Imaging of Neurofibromatosis Type I: In vivo Pathophysiology, Brain-Behavior Relationships and Reading Disabilities
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In: DTIC AND NTIS (2005)
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Magnetic Resonance Spectroscopy Imaging and Functional Magnetic Resonance Imaging of Neurofibromatosis Type I: In Vivo Pathophysiology Brain-Behavior Relationships and Reading Disabilities
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In: DTIC AND NTIS (2003)
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Cerebral glucose metabolism in neurofibromatosis type 1 assessed with [18F]-2-fluoro-2-deoxy-D-glucose and PET
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