2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Improved Neurocognitive Outcomes in Neuronopathic Mucopolysaccharidosis Type II: A Case of Early Hematopoietic Stem Cell Transplant

Pdf Summary

This document discusses a case study of a 4-year 7-month-old male with Mucopolysaccharidosis type II (MPS II) who underwent hematopoietic stem cell transplant (HSCT) at 22 months of age. The patient showed symptoms such as progressive macrocephaly, gross motor delays, coarse facial features, hepatomegaly, and umbilical hernia. Neurocognitive evaluations were conducted at 18 months, 30 months, and 48 months of age using various assessment tools including the Bayley Scales of Infant and Toddler Development, Receptive Expressive Emergent Language Scale, and Adaptive Behavior Assessment System. Results showed that the patient had delays in expressive language, fine and gross motor skills, and below-average cognitive development. However, there were improvements in expressive language and overall developmental gains.<br /><br />The study highlights the benefits of early identification of severe neuronopathic MPS II and supports HSCT as a preferred treatment modality. The patient's neurocognitive functioning was preserved, and ongoing developmental progress was observed. The study also mentions the limitations of current therapies in addressing the neurological phenotype of MPS II and the potential of HSCT to preserve cognitive function.<br /><br />The document includes figures depicting the patient's assessments, enzyme activity, and urine glycosaminoglycans (GAGs) levels before and after HSCT. The case presentation provided details of the patient's diagnosis, treatment, and post-transplant complications. The conclusion emphasizes the importance of early identification and treatment for severe neuronopathic MPS II.<br /><br />The document references several studies and literature reviews on the treatment and management of MPS II, as well as the natural history of neurocognition in MPS disorders. It also mentions the addition of MPS II to the Recommended Uniform Screening Panel (RUSP) and the potential of HSCT to improve overall health outcomes in MPS II patients.

Asset Subtitle

Presenting Author - Emma Michl, MSN, RN, CPNP-PC; Co-Author - Benjamin Goodlett, PhD; Co-Author - Christine Duncan, MD; Co-Author - Olaf A. Bodamer, MD, PhD, FACMG;

Meta Tag

X-Inactivation/X-Linked Disease

Transplantation

Therapy

Metabolic Disorder

Lysosomal Diseases

Intellectual disability

Enzyme Replacement Therapy

Cognitive Disorders

Brain/Nervous System

Biochemical genetics

Co-Author Olaf A. Bodamer, MD, PhD, FACMG

Co-Author Christine Duncan, MD

Co-Author Benjamin Goodlett, PhD

Presenting Author Emma Michl, MSN, RN, CPNP-PC

Keywords

Mucopolysaccharidosis type II

Hematopoietic stem cell transplant

Neurocognitive evaluations

Expressive language delays

Fine and gross motor delays

Cognitive development

Benefits of HSCT as a treatment modality

Preservation of neurocognitive functioning

Limitations of current therapies

Recommended Uniform Screening Panel (RUSP)