Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or endocrine disorder: a population-based approach

doi:10.1067/S0022-3476(03)00358-5

The Journal of Pediatrics

Volume 143, Issue 2, August 2003, Pages 236-242

https://doi.org/10.1067/S0022-3476(03)00358-5 Get rights and content

Abstract

Objective To conduct surveillance of the developmental status of children who screen positive and are diagnosed with a metabolic or endocrine disorder.

Study design The Centers for Disease Control and Prevention linked three data sources in Georgia: (1) Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP), (2) Special Education Database of Metropolitan Atlanta (SEDMA), and (3) State of Georgia Newborn Blood-Spot Screening Program (NBSP).

Results When MADDSP and NBSP were linked (birth cohorts 1981-1991), of an estimated 147 infants who screened positive for a metabolic or endocrine disorder and were at risk for mental retardation if left untreated, only three children were identified with mental retardation. When SEDMA and NBSP were linked (birth cohorts 1981-1995), of an estimated 216 children who screened positive for a metabolic or endocrine disorder, nine children were identified as having a developmental disability less severe than mental retardation, eg, speech and language impairments.

Conclusions Although children found in MADDSP or SEDMA have a low occurrence of developmental disabilities attributable to these metabolic or endocrine disorders, our finding of cases of developmental disabilities of varying severity attributable to a metabolic or endocrine disorder suggests a need for ongoing population-based monitoring of the long-term developmental outcomes of children identified through newborn screening programs.

Section snippets

Metabolic/Endocrine disorder data

The NBSP is a collaborative effort of the Division of Medical Genetics, Department of Pediatrics, Emory University School of Medicine, and the Georgia Department of Human Resources, Division of Public Health. The Georgia Public Health Laboratory conducts newborn blood-spot screening for phenylketonuria, galactosemia (classic and variant), tyrosinemia, congenital hypothyroidism, maple syrup urine disease, homocystinuria, and congenital adrenal hyperplasia. Children who screen positive are

Results

Among metropolitan Atlanta births, 1981 to 1991, 14 children were identified as being cases in both NBSP and MADDSP. All 14 children were identified as having mental retardation, including nine with congenital hypothyroidism, two with classic galactosemia (galactose-1-phosphate uridyl transferase deficiency), two with maple syrup urine disease, and one with tyrosinemia. Of these 14 children, three (one with classic galactosemia and two with maple syrup urine disease) were determined by the

Discussion

This investigation provides a population-based assessment of long-term neurodevelopmental outcomes of neonates who screen positive for and are subsequently diagnosed with a metabolic or endocrine disorder. Our findings that children in the metropolitan Atlanta area have a lower than expected occurrence of developmental disabilities attributable to serious metabolic or endocrine disorders support the effectiveness of NBSP in preventing serious developmental disabilities and emphasize the

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One possible future opportunity to better understand care delivery for children with congenital hypothyroidism is to analyze linked administrative health, education, and newborn screening records for multiple years of births. For example, 1 report described 2 separate analyses based on linking newborn screening records on 362 390 births in metropolitan Atlanta, Georgia, during 1981-1991 with surveillance data on developmental disabilities and linking data on 520 625 children born in 1981-1995 to special education records.16 Another study linked newborn screening records for 354 137 children born in New South Wales, Australia during 1994-2002 to education records and records for 149 569 children born during 2002-2008 to developmental assessments.17
To measure the rates of thyroid gland imaging and levothyroxine (L-T₄) discontinuation and to assess whether discontinuation was monitored with thyroid-stimulating hormone testing in subjects with congenital hypothyroidism.
This is a retrospective analysis of claims data from the IBM MarketScan Databases for children born between 2010 and 2016 and continuously enrolled in a noncapitated employer-sponsored private health insurance plan or in Medicaid for ≥36 months from the date of the first filled L-T₄ prescription.
There were 263 privately insured and 241 Medicaid-enrolled children who met the inclusion criteria. More privately insured than Medicaid-enrolled children had imaging between the first filled prescription and 180 days after the last filled prescription (24.3% vs 12.9%; P = .001). By 36 months, 35.7% discontinued L-T₄, with no difference by insurance status (P = .48). Among those who discontinued, 29.1% of privately insured children and 47.7% of Medicaid-enrolled children had no claims for thyroid-stimulating hormone testing within the next 180 days (P = .01).
Nearly one-third of children with suspected congenital hypothyroidism discontinued L-T₄ by 3 years and fewer Medicaid-enrolled than privately insured children received timely follow-up thyroid-stimulating hormone testing. Future studies are indicated to understand the quality of care and developmental outcomes for children with congenital hypothyroidism and barriers to guideline adherence in evaluating for transient congenital hypothyroidism.
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Currently, very few studies on long-term follow-up of health outcomes and health-care utilization of children with NBS disorders are available. Studies have shown that information about long-term outcomes of affected children is critical and valuable for evaluating the effectiveness of medical treatments and services, monitoring health-care utilization of affected individuals, and estimating the prevalence or incidence of the disease.9,10,11,12,13,14,15 This study analyzed acute care utilization patterns of children with IMDs during their first 3 years of life using available administrative data sources.
Currently, very few studies on long-term follow up of health outcomes and health-care utilization of children with inherited metabolic disorders identified through newborn screening are available. In this project, we analyzed acute care utilization for children with inherited metabolic disorders.
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To examine the presence of developmental disabilities and receipt of special education services in children with an inborn error of metabolism.
The study population was children born from 1988 through 2001 in whom a metabolic disorder was diagnosed after identification by newborn screening (n = 97) or after clinical identification (n = 34). These children were linked to the Metropolitan Atlanta Development Disability Surveillance Program (MADDSP) and Special Education Database of Metropolitan Atlanta (SEDMA) to determine developmental outcomes at 8 years of age and 3 through 10 years of age, respectively. Medical and educational records were examined to consider factors contributing to developmental outcomes.
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Of an estimated 147 infants who screened positive for a metabolic or endocrine disorder (ie, were at risk for mental retardation if left untreated), only 3 children were identified with intellectual disabilities. Of an estimated 216 children who screened positive for a metabolic or endocrine disorder, 9 children were identified as having a developmental disability less severe than intellectual disabilities (eg, speech-language impairments).8 Despite the general successes of NBS programs, several unanticipated consequences of NBS have occurred.
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The new social roles of young adulthood, coupled with the vulnerabilities created as a result of declining support systems, underscore the need to examine the consequences of developmental disabilities among individuals in this age group. Each analysis conducted using MADDS Follow‐Up Study data demonstrated that there is significant variability in daily functioning (Van Naarden Braun, Yeargin‐Allsopp, & Lollar, in press), obtaining an adult social role (Van Naarden Braun, Yeargin‐Allsopp, & Lollar, 2006), participating in a diversity of leisure activity (Van Naarden Braun, Yeargin‐Allsopp, & Lollar, 2005), and maintaining a healthy lifestyle (Rurangirwa, Van Naarden Braun, Schendel, & Yeargin‐Allsopp, 2006) among young adults with developmental disabilities identified in childhood by type and severity of impairment. For young adults with an isolated developmental disability, limitations in daily activities, difficulties in acquiring normative markers of adulthood, and restrictions in leisure activities need not be expected outcomes.
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Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or endocrine disorder: a population-based approach

Abstract

Section snippets

Metabolic/Endocrine disorder data

Results

Discussion

J Pediatr

J Pediatr

J Pediatr

Genet Med

Long-term prognosis in galactosemia: results of a survey of 350 cases

J Inherit Metab Dis

Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect

BMJ

The science and politics of screening newborns

N Engl J Med

Mental retardation following diagnosis of a metabolic disorder in children aged 3-10 years—metropolitan Atlanta, Georgia, 1991-1994

MMWR Morb Mortal Wkly Rep

Neonatal screening and an intensive management programme for galactosemia: early evidence of benefits

Med J Aust

Prognostic factors in the intellectual development at 7 years of age in children with congenital hypothyroidism

J Endocrinol Invest