Early development of infants with neurofibromatosis type 1Citation formats

  • Authors:
  • Anna May Kolesnik
  • Emily Jane Harrison Jones
  • Shruti Garg
  • Jonathan Green
  • Tony Charman
  • Mark Henry Johnson
  • Simon Baron-Cohen
  • Jannath Begum-Ali
  • Patrick Bolton
  • Celeste Cheung
  • Leila Dafner
  • Kim Davies
  • Mayada Elsabbagh
  • Janice Fernandes
  • Laurel Fish
  • Isobel Gammer
  • Marian Greensmith
  • Teodora Gliga
  • Sarah Kalwarowsky
  • Michelle Liew
  • Greg Pasco
  • Andrew Pickles
  • Helena Ribeiro
  • Erica Salomone
  • Chloe Taylor
  • Leslie Tucker
  • Sam Wass
  • Emma Burkitt-Wright
  • D. Gareth Evans
  • Grace Vassallo
  • Judith Eelloo
  • Siobhan West
  • Elizabeth Howard
  • Eileen Hupton
  • Sue Huson
  • Lauren Lewis
  • Karen Tricker
  • Angus Dobbie
  • Ruth Drimer
  • Saghira Malik Sharif
  • Diane Baralle
  • Carolyn Redman
  • Saba Sharif
  • Carolyn Symth
  • Wayne Lam
  • Alyson Bradbury
  • Neil Harrower
  • Oliver Quarrell
  • Helen Bethell
  • Rachel Jones
  • Eden-Basis Team

Standard

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; 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; Eden-Basis Team.

In: Molecular Autism, Vol. 8, No. 1, 62, 23.11.2017.

Research output: Contribution to journalArticlepeer-review

Harvard

Kolesnik, AM, Jones, EJH, Garg, S, Green, J, Charman, T, Johnson, MH, Baron-Cohen, S, Begum-Ali, J, Bolton, P, Cheung, C, Dafner, L, Davies, K, Elsabbagh, M, Fernandes, J, Fish, L, Gammer, I, Greensmith, M, Gliga, T, Kalwarowsky, S, Liew, M, Pasco, G, Pickles, A, Ribeiro, H, Salomone, E, Taylor, C, Tucker, L, Wass, S, Burkitt-Wright, E, Evans, DG, Vassallo, G, Eelloo, J, West, S, Howard, E, Hupton, E, Huson, S, Lewis, L, Tricker, K, Dobbie, A, Drimer, R, Sharif, SM, Baralle, D, Redman, C, Sharif, S, Symth, C, Lam, W, Bradbury, A, Harrower, N, Quarrell, O, Bethell, H, Jones, R & Eden-Basis Team 2017, 'Early development of infants with neurofibromatosis type 1: a case series', Molecular Autism, vol. 8, no. 1, 62. https://doi.org/10.1186/s13229-017-0178-0

APA

Kolesnik, A. M., Jones, E. J. H., Garg, S., Green, J., Charman, T., Johnson, M. H., Baron-Cohen, S., Begum-Ali, J., Bolton, P., Cheung, C., Dafner, L., Davies, K., Elsabbagh, M., Fernandes, J., Fish, L., Gammer, I., Greensmith, M., Gliga, T., Kalwarowsky, S., ... Eden-Basis Team (2017). Early development of infants with neurofibromatosis type 1: a case series. Molecular Autism, 8(1), [62]. https://doi.org/10.1186/s13229-017-0178-0

Vancouver

Kolesnik AM, Jones EJH, Garg S, Green J, Charman T, Johnson MH et al. Early development of infants with neurofibromatosis type 1: a case series. Molecular Autism. 2017 Nov 23;8(1). 62. https://doi.org/10.1186/s13229-017-0178-0

Author

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 ; Eden-Basis Team. / Early development of infants with neurofibromatosis type 1 : a case series. In: Molecular Autism. 2017 ; Vol. 8, No. 1.

Bibtex

@article{6e9aba37a1d04b22a4494d943d9bcbdf,
title = "Early development of infants with neurofibromatosis type 1: a case series",
abstract = "BackgroundProspective 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.MethodsWe 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.ResultsInfants 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.ConclusionsTen-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.",
keywords = "Adaptive functioning, Autism, Cognition, Development, Infant, NF1, Prospective longitudinal, Sensory processing, Social engagement, Translational neurodevelopment",
author = "Kolesnik, {Anna May} and Jones, {Emily Jane Harrison} and Shruti Garg and Jonathan Green and Tony Charman and Johnson, {Mark Henry} and Simon Baron-Cohen and Jannath Begum-Ali and Patrick Bolton and Celeste Cheung and Leila Dafner and Kim Davies and Mayada Elsabbagh and Janice Fernandes and Laurel Fish and Isobel Gammer and Marian Greensmith and Teodora Gliga and Sarah Kalwarowsky and Michelle Liew and Greg Pasco and Andrew Pickles and Helena Ribeiro and Erica Salomone and Chloe Taylor and Leslie Tucker and Sam Wass and Emma Burkitt-Wright and Evans, {D. Gareth} and Grace Vassallo and Judith Eelloo and Siobhan West and Elizabeth Howard and Eileen Hupton and Sue Huson and Lauren Lewis and Karen Tricker and Angus Dobbie and Ruth Drimer and Sharif, {Saghira Malik} and Diane Baralle and Carolyn Redman and Saba Sharif and Carolyn Symth and Wayne Lam and Alyson Bradbury and Neil Harrower and Oliver Quarrell and Helen Bethell and Rachel Jones and {Eden-Basis Team}",
note = "Molecular Autism, Brain, Cognition and Behavior, 2017, 8:62",
year = "2017",
month = nov,
day = "23",
doi = "10.1186/s13229-017-0178-0",
language = "English",
volume = "8",
journal = "Molecular Autism",
issn = "2040-2392",
publisher = "Springer Nature",
number = "1",

}

RIS

TY - JOUR

T1 - Early development of infants with neurofibromatosis type 1

T2 - a case series

AU - Kolesnik, Anna May

AU - Jones, Emily Jane Harrison

AU - Garg, Shruti

AU - Green, Jonathan

AU - Charman, Tony

AU - Johnson, Mark Henry

AU - Baron-Cohen, Simon

AU - Begum-Ali, Jannath

AU - Bolton, Patrick

AU - Cheung, Celeste

AU - Dafner, Leila

AU - Davies, Kim

AU - Elsabbagh, Mayada

AU - Fernandes, Janice

AU - Fish, Laurel

AU - Gammer, Isobel

AU - Greensmith, Marian

AU - Gliga, Teodora

AU - Kalwarowsky, Sarah

AU - Liew, Michelle

AU - Pasco, Greg

AU - Pickles, Andrew

AU - Ribeiro, Helena

AU - Salomone, Erica

AU - Taylor, Chloe

AU - Tucker, Leslie

AU - Wass, Sam

AU - Burkitt-Wright, Emma

AU - Evans, D. Gareth

AU - Vassallo, Grace

AU - Eelloo, Judith

AU - West, Siobhan

AU - Howard, Elizabeth

AU - Hupton, Eileen

AU - Huson, Sue

AU - Lewis, Lauren

AU - Tricker, Karen

AU - Dobbie, Angus

AU - Drimer, Ruth

AU - Sharif, Saghira Malik

AU - Baralle, Diane

AU - Redman, Carolyn

AU - Sharif, Saba

AU - Symth, Carolyn

AU - Lam, Wayne

AU - Bradbury, Alyson

AU - Harrower, Neil

AU - Quarrell, Oliver

AU - Bethell, Helen

AU - Jones, Rachel

AU - Eden-Basis Team

N1 - Molecular Autism, Brain, Cognition and Behavior, 2017, 8:62

PY - 2017/11/23

Y1 - 2017/11/23

N2 - BackgroundProspective 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.MethodsWe 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.ResultsInfants 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.ConclusionsTen-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.

AB - BackgroundProspective 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.MethodsWe 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.ResultsInfants 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.ConclusionsTen-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.

KW - Adaptive functioning

KW - Autism

KW - Cognition

KW - Development

KW - Infant

KW - NF1

KW - Prospective longitudinal

KW - Sensory processing

KW - Social engagement

KW - Translational neurodevelopment

UR - http://www.scopus.com/inward/record.url?scp=85035137206&partnerID=8YFLogxK

U2 - 10.1186/s13229-017-0178-0

DO - 10.1186/s13229-017-0178-0

M3 - Article

AN - SCOPUS:85035137206

VL - 8

JO - Molecular Autism

JF - Molecular Autism

SN - 2040-2392

IS - 1

M1 - 62

ER -