Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

Description

The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs.

Conditions

Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant, Development, Child

Study Overview

Study Details

Study overview

The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs.

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

Condition
Genetic Disease
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Eligible patients are infants under 4 years of age with genetic disorders undergoing developmental surveillance in the NICU GraDS program.
  • * Children 4 years of age or older will be excluded.

Ages Eligible for Study

to 4 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Boston Children's Hospital,

Monica Wojcik, MD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

2025-12-01