Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.

OBJECTIVES: The purpose of this study is to explore which newborn screening (NBS) conditions are automatically eligible for early intervention (EI) across states and to determine the extent to which each disorder should automatically qualify for EI because of a high probability of developmental delay. METHODS: We examined each state's EI eligibility policy and reviewed the literature documenting developmental outcomes for each NBS condition. Using a novel matrix, we assessed the risk of developmental delay, medical complexity, and risk of episodic decompensation, revising the matrix iteratively until reaching consensus. Three NBS conditions (biotinidase deficiency, severe combined immunodeficiency, and propionic acidemia) are presented in detail as examples. RESULTS: Most states (88%) had Established Conditions lists to autoqualify children to EI. The average number of NBS conditions listed was 7.8 (range 0-34). Each condition appeared on average in 11.7 Established Conditions lists (range 2-29). After the literature review and consensus process, 29 conditions were likely to meet national criteria for an Established Condition. CONCLUSION: Despite benefiting from NBS and timely treatment, many children diagnosed with NBS conditions are at risk for developmental delays and significant medical complexity. The results demonstrate a need for more clarity and guidance regarding which children should qualify for EI. We suggest that most NBS conditions should automatically qualify based on the probability of resulting in a developmental delay. These findings suggest a future opportunity for collaboration between NBS and EI programs to create a consistent set of Established Conditions, potentially expediate referrals of eligible children, and streamline children's access to EI services.

Ages and Stages Questionnaire: a global screening scale / Ages and Stages Questionnaire: una escala de evaluación global

Abstract: With standardized screening tools, research studies have shown that developmental disabilities can be detected reliably and with validity in children as young as 4 months of age by using the instruments such as the Ages and Stages Questionnaire. In this review, we will focus on one tool, the Ages and Stages Questionnaire, to illustrate the usefulness of developmental screening across the globe.

Resumen: Mediante el uso de herramientas de evaluación estandarizada, algunos estudios de investigación han demostrado que discapacidades de desarrollo se pueden detectar con fiabilidad y validez en niños desde los 4 meses de edad mediante el uso de los instrumentos estandarizados como el Ages and Stages Questionnaire (Cuestionario de las Edades y Etapas). Para ilustrar la utilidad de la evaluación del desarrollo infantil a escala global, en este trabajo se revisará la herramienta Ages and Stages Questionnaire.

Ages and Stages Questionnaire: a global screening scale.

With standardized screening tools, research studies have shown that developmental disabilities can be detected reliably and with validity in children as young as 4 months of age by using the instruments such as the Ages and Stages Questionnaire. In this review, we will focus on one tool, the Ages and Stages Questionnaire, to illustrate the usefulness of developmental screening across the globe.