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Early development of infants with neurofibromatosis type 1: a case series
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 a...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701449/ https://www.ncbi.nlm.nih.gov/pubmed/29204259 http://dx.doi.org/10.1186/s13229-017-0178-0 |
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author | Kolesnik, Anna May Jones, Emily Jane Harrison Garg, Shruti Green, Jonathan Charman, Tony Johnson, Mark Henry |
author_facet | Kolesnik, Anna May Jones, Emily Jane Harrison Garg, Shruti Green, Jonathan Charman, Tony Johnson, Mark Henry |
author_sort | Kolesnik, Anna May |
collection | PubMed |
description | 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13229-017-0178-0) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-5701449 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-57014492017-12-04 Early development of infants with neurofibromatosis type 1: a case series Kolesnik, Anna May Jones, Emily Jane Harrison Garg, Shruti Green, Jonathan Charman, Tony Johnson, Mark Henry Mol Autism Research 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13229-017-0178-0) contains supplementary material, which is available to authorized users. BioMed Central 2017-11-23 /pmc/articles/PMC5701449/ /pubmed/29204259 http://dx.doi.org/10.1186/s13229-017-0178-0 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Kolesnik, Anna May Jones, Emily Jane Harrison Garg, Shruti Green, Jonathan Charman, Tony Johnson, Mark Henry Early development of infants with neurofibromatosis type 1: a case series |
title | Early development of infants with neurofibromatosis type 1: a case series |
title_full | Early development of infants with neurofibromatosis type 1: a case series |
title_fullStr | Early development of infants with neurofibromatosis type 1: a case series |
title_full_unstemmed | Early development of infants with neurofibromatosis type 1: a case series |
title_short | Early development of infants with neurofibromatosis type 1: a case series |
title_sort | early development of infants with neurofibromatosis type 1: a case series |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701449/ https://www.ncbi.nlm.nih.gov/pubmed/29204259 http://dx.doi.org/10.1186/s13229-017-0178-0 |
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