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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Neuropsychological follow-up in neonatal screening: issues, methods and findings
1Department of Behavioral and Social Sciences, Southern Illinois University School of Medicine, Carbondale 62901-6517, USA. sberenbaum@som.siu.edu
Insights
Neonatal screening for conditions like phenylketonuria significantly reduces developmental issues. Early diagnosis and treatment improve psychological outcomes, though some irreversible behavioral changes may persist.
Area of Science:
- Neuroscience
- Developmental Psychology
- Pediatrics
Background:
- Neonatal screening identifies infants with genetic and metabolic disorders like phenylketonuria (PKU), congenital hypothyroidism (CH), and congenital adrenal hyperplasia (CAH).
- These conditions, if untreated, can lead to significant neurodevelopmental impairments, including intellectual disability and behavioral problems.
- Ongoing research investigates the long-term psychological outcomes in children diagnosed through neonatal screening programs.
Purpose of the Study:
- To document the impact of neonatal screening on reducing mental retardation, learning difficulties, and behavioral problems in children with PKU, CH, and CAH.
- To describe and understand the spectrum of behavioral changes associated with these disorders, differentiating between transient and irreversible effects.
- To explore the commonalities in research approaches and the underlying neural mechanisms influencing psychological outcomes in screened neonates.
Main Methods:
- Utilizing a developmental neuropsychological perspective for disorder-specific behavioral assessments.
- Tracking behavioral changes over time in relation to brain development and maturation.
- Investigating the neural mechanisms underlying behavioral manifestations and outcomes.
Main Results:
- Neonatal screening demonstrably reduces the incidence of mental retardation and learning difficulties.
- Behavioral changes associated with these disorders can be transient and preventable with early intervention, but some may be irreversible.
- Psychological assessments encompass IQ, specific cognitive abilities, social behavior, temperament, and identity.
Conclusions:
- Neonatal screening programs lead to improved psychological outcomes by enabling early diagnosis and treatment.
- Hormones and neurotransmitters play a critical role in brain development and function, influencing psychological outcomes.
- These studies provide valuable models for the psychological follow-up of other conditions detected through neonatal screening.
Abstract:
There are several ongoing studies of psychological outcome in children identified through neonatal screening with phenylketonuria, congenital hypothyroidism or congenital adrenal hyperplasia. These studies document the reduction in mental retardation, learning difficulties and behaviour problems associated with neonatal screening. They also describe other behavioural changes resulting from these disorders. Some behavioural changes are transient or preventable with early diagnosis and treatment, whereas some appear to be irreversible, reflecting permanent brain effects of abnormalities associated with the disease. Despite the variety of disorders studied, there are commonalities in approach and issues, including a developmental neuropsychological perspective resulting in behavioural assessments specific to the disorder and its likely manifestations, a recognition that behaviour may change across time in association with brain development and an understanding of the neural mechanisms underlying the behavioural changes. Assessments go beyond IQ, and include specific intellectual abilities, social behaviour, temperament, behaviour problems and identity. Behavioural changes are related to specific characteristics of the disease and its treatment, including the timing of exposure to abnormal hormones and/or neurotransmitters, the severity of the disease, and the age at initiation and adequacy of treatment. These studies provide information about the ways in which hormones and neurotransmitters affect the development and ongoing function of the brain, and an understanding of the ways in which neonatal screening results in improved psychological outcome. They also provide models for psychological follow-up of other disorders detected through neonatal screening.
