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

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

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

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Maximum Age: 4 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Infants with rare genetic disorders<br>This is a prospective, registry study of infants with genetic disorders being seen clinically in the NICU GraDS program. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Registry of infants with rare genetic disorders | Study subjects will be followed in the NICU GraDS program until approximately 3 years of age, though there will be prospective review of medical records until a maximum age of 18 years. | Up to 18 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetics, Infant Development