Developmental Support for Infants With Genetic Disorders.
As the technical ability for genetic diagnosis continues to improve, an increasing number of diagnoses are made in infancy or as early as the neonatal period. Many of these diagnoses are known to be associated with developmental delay and intellectual disability, features that would not be clinicall...
| Publicado en: | Pediatrics Vol. 145; no. 5; pp. 1 - 11 |
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| Autores principales: | , , , |
| Formato: | review tables/charts Journal Article |
| Publicado: |
American Academy of Pediatrics
May2020
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=143065567&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 143065567 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00314005 PDT jtl: Pediatrics issn: 00314005 maglogo: N pubinfo: dt: May2020 vid: 145 iid: 5 pid: 1659 pub: American Academy of Pediatrics place: Elk Grove Village, Illinois artinfo: ui: 143065567 143065567 143065567 10.1542/peds.2019-0629 143065567 ppf: 1 ppct: 10 formats: tig: atl: Developmental Support for Infants With Genetic Disorders. aug: au: Wojcik, Monica H. Stewart, Jane E. Waisbren, Susan E. Litt, Jonathan S. affil: Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts sug: subj: Hereditary Diseases Diagnosis Hereditary Diseases Complications Hereditary Diseases Therapy Infant Development Pediatric Care Developmental Disabilities Risk Factors Nervous System Diseases Risk Factors Patient Discharge Neonatal Assessment Infant, Premature After Care Intensive Care, Neonatal Early Childhood Intervention Treatment Outcomes ab: As the technical ability for genetic diagnosis continues to improve, an increasing number of diagnoses are made in infancy or as early as the neonatal period. Many of these diagnoses are known to be associated with developmental delay and intellectual disability, features that would not be clinically detectable at the time of diagnosis. Others may be associated with cognitive impairment, but the incidence and severity are yet to be fully described. These neonates and infants with genetic diagnoses therefore represent an emerging group of patients who are at high risk for neurodevelopmental disabilities. Although there are well-established developmental supports for high-risk infants, particularly preterm infants, after discharge from the NICU, programs specifically for infants with genetic diagnoses are rare. And although previous research has demonstrated the positive effect of early developmental interventions on outcomes among preterm infants, the impact of such supports for infants with genetic disorders who may be born term, remains to be understood. We therefore review the literature regarding existing developmental assessment and intervention approaches for children with genetic disorders, evaluating these in the context of current developmental supports postdischarge for preterm infants. Further research into the role of developmental support programs for early assessment and intervention in high-risk neonates diagnosed with rare genetic disorders is needed. pubtype: Academic Journal doctype: review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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