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

Boston Children's Hospital

Status: Enrolling

Conditions: Development, Child; Genetic Syndrome; Genetic Predisposition to Disease; Genetic Disease; Development, Infant

Study type: Observational

Funder types: Other

Identifiers

NCT03967743

IRB-P00031382

Details and patient eligibility

About

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.

Full 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. Related factors such as quality of life and parental stress will also be assessed which will complement the evaluation of the role of a "developmental home" for these high risk infants. It is also hypothesized that gaps in care - mismatches between services received and services indicated based upon the developmental evaluation - will be identified. The results of this study will be used to inform future research efforts utilizing targeted approaches to improve developmental outcomes.

For infants with rare genetic disorders, the aims are as follows:

Aim 1: Characterize physical and psychosocial development using standardized longitudinal assessments.

Aim 2: Identify developmental service needs, prescription, and utilization.

Aim 3: Assess parental stress and health-related quality of life.

Enrollment: 150 estimated patients

Sex: All

Ages: Under 4 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Eligible patients are infants under 4 years of age with genetic disorders undergoing developmental surveillance in the NICU GraDS program.

Exclusion criteria

• Children 4 years of age or older will be excluded.

Trial design

150 participants in 1 patient group

Infants with rare genetic disorders

Description:

This is a prospective, registry study of infants with genetic disorders being seen clinically in the NICU GraDS program.