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Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1
Scott D Grosse1, Wendy K K Lam2, Lisa D Wiggins1
1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Insights
Early hematopoietic cell transplantation (HCT) improves cognitive outcomes for infants with Hurler syndrome (MPS IH). However, ongoing cognitive and attention deficits may necessitate special education services.
Area of Science:
- Medical Genetics
- Newborn Screening
- Developmental Pediatrics
Background:
- Mucopolysaccharidosis type 1 (MPS I) was recommended for newborn screening in 2016.
- Early hematopoietic cell transplantation (HCT) is crucial for severe MPS I (Hurler syndrome, MPS IH) to improve cognitive outcomes.
- Evidence indicates HCT within the first year of life correlates with better developmental and intelligence quotients.
Purpose of the Study:
- To evaluate the impact of early detection and HCT on cognitive outcomes in MPS I.
- To understand the long-term cognitive and attention deficits following HCT for MPS IH.
- To identify the need for further research on supportive therapies and presymptomatic treatment.
Main Methods:
- Review of peer-reviewed studies on HCT outcomes for MPS IH.
- Analysis of cognitive development, including developmental quotient (DQ) and intelligence quotient (IQ).
- Assessment of attention and the need for special education services.
Main Results:
- Earlier HCT is associated with improved cognitive growth and outcomes in MPS IH.
- Despite HCT, cognitive functioning and attention may still lag behind unaffected peers.
- Verbal and nonverbal cognitive abilities might be differentially affected by HCT.
Conclusions:
- HCT is beneficial for cognitive outcomes in MPS IH, especially when initiated early.
- Long-term cognitive deficits and attention issues persist, highlighting the need for supportive care.
- Further research is required to optimize presymptomatic treatment and supportive therapies for MPS I.
Abstract:
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to improved cognitive outcomes. Consistent evidence from peer-reviewed studies suggests that transplantation in the first year of life is associated with improved developmental quotient or intelligence quotient and continued cognitive growth, with earlier age of treatment associated with improved outcomes. However, available evidence suggests that cognitive functioning and attention can still lag behind unaffected age-matched children, leading to the need for special education services. Verbal and nonverbal cognitive abilities outcomes may be affected differently by HCT. With the recent addition of MPS I to the recommended uniform screening panel, future work is needed to evaluate the impact of earlier, presymptomatic detection and treatment initiation and other supportive therapies on cognitive outcomes.Genet Med advance online publication 26 January 2017.
