Effectiveness of neonatal screening for congenital hypothyroidism

Introduction: Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Newborn screening program considerably increases probability of CH diagnosis and treatment. Objectives: We aimed to investigate the efficacy of running CH screening program to maintain normal IQ and physical growth of hypothyroid children in Semnan city. Patients and Methods: This study was performed on children with definite CH who were treated and followed up in Semnan health centers. Around 41 children born within 2008-2013 (minimum three years of age) participated. Respective weight and height for age were measured. The Z-scores were calculated based on the WHO-Anthro-Anthro Plus Software. Intelligence Quotient (IQ) was measured with Wechsler Intelligence Score for children-revised (WISC-R). Data analyzed with one-tailed t test compared with age and gender-matched group. Results: The mean IQ Score in our study group was 90.09 (1.73) with no significant difference compared to healthy counterparts (P > 0.05). Z-score for weight and height was -0.46 and -0.45 prospectively and was not significantly different from normal children. Conclusion: Newborn screening program for CH has been effective in preventing mental retardation and growth failure.

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

Mucopolysaccharidosis Type I Disease Prevalence among Idiopathic Short Stature Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study (Preprint)

UNSTRUCTURED Background: Since the underlying cause of an idiopathic short stature, could be indeed an undiagnosed MPS type I patient, it will be critical to identify MPS type I patients amongst screened patients with idiopathic short stature. Therefore, the primary objective of this study is to determine the prevalence of MPS type I disease in the high-risk group (patients with idiopathic short stature). Methods: We planned to perform a multicenter, cross-sectional, screening study to primarily assess the prevalence of MPS type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents/guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics. A total of 800 patients was required for this study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. To date, there are no reliable data regarding the incidence or prevalence of MPS type I in Saudi Arabia, and future multicenter studies are needed. Besides, the prevalence of an attenuated form of MPS type I is largely underestimated in Saudi Arabia due to the absence of an effective newborn screening program. Therefore, the implementation of a nationwide newborn screening program is essential for accurate estimation of the burden of MPS and early diagnosis of the patients.