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Gross motor abilities in children with Hurler syndrome
Stacey C Dusing1, Deborah Thorpe, Angela Rosenberg
1Department of Physical Therapy, School of Allied Health Professionals, Virginia Commonwealth University, Richmond, Virginia 23298-0224, USA. scdusing@vcu.edu
Insights
Children with Hurler syndrome exhibit significant gross motor delays, particularly in locomotor skills. Early physical therapy intervention is crucial for managing these developmental challenges in infants with this rare genetic disorder.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Genetics
Background:
- Hurler syndrome, the most severe form of mucopolysaccharidosis type I, often presents with complex medical needs.
- Limited research exists on the gross motor development of infants with untreated Hurler syndrome.
- Early identification of developmental milestones is critical for timely intervention.
Observation:
- This case series evaluated the gross motor abilities of four infants (one male, three female; mean age 11.4 months) diagnosed with Hurler syndrome.
- Assessments utilized the Peabody Developmental Motor Scales, 2nd edition.
- All participants displayed gross motor delays, most pronounced in locomotor skills.
Findings:
- All four children demonstrated significant gross motor delays.
- Locomotor abilities were most affected in three of the children.
- Range of motion limitations were observed in multiple joints across all participants.
Implications:
- This study highlights the presence of early gross motor delays in infants with Hurler syndrome.
- It underscores the need for prompt referral to physical therapy services upon diagnosis.
- Integrating physical therapists into the interdisciplinary care team is recommended for optimal management.
Abstract:
Hurler syndrome is the most severe form of mucopolysaccharidosis type I. There is a paucity of literature reporting the gross motor abilities of children with untreated Hurler syndrome. The purpose of this case series is to describe the gross motor abilities of one male and three female children (mean age 11.4mo [SD 3.1]; range 9.5-16mo) diagnosed with Hurler syndrome. The children were assessed using the Peabody Developmental Motor Scales, 2nd edition. Gross motor delays were present in all four children at the time of assessment, and were most evident in locomotor abilities for three of the children. All four children had range of motion limitations at multiple joints. This case series provides evidence for early gross motor delays in this population, as well as evidence for specific gross motor abilities of children with untreated Hurler syndrome. It is recommended that children diagnosed with Hurler syndrome be referred to physical therapy services upon diagnosis and that physical therapists be part of the interdisciplinary team involved in the care of children with Hurler syndrome.
