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Natural history of Sanfilippo syndrome type A

Dakota Buhrman1, Kavita Thakkar, Michele Poe

  • 1University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, 4401 Penn Ave, Pittsburgh, PA, 15213, USA.

Journal of Inherited Metabolic Disease
|November 26, 2013
PubMed

Insights

Sanfilippo syndrome type A causes severe hearing loss and speech delay, leading to rapid cognitive decline by age 3. Diagnosis delays are significant, necessitating increased clinical awareness for this rare genetic disorder.

Area of Science:

  • Rare genetic disorders
  • Pediatric neurology
  • Lysosomal storage diseases

Background:

  • Sanfilippo syndrome type A is a rare, progressive neurodegenerative disorder.
  • It affects cognitive function, behavior, and physical development in children.
  • Understanding its natural history is crucial for management and therapeutic development.

Purpose of the Study:

  • To delineate the natural history of Sanfilippo syndrome type A.
  • To identify key clinical manifestations and their progression.
  • To highlight diagnostic challenges and areas for improved awareness.

Main Methods:

  • Retrospective review of 46 children diagnosed with Sanfilippo syndrome type A.
  • Data collected on neurodevelopmental, audiological, growth, behavioral, cognitive, motor, and speech/language assessments.
  • Analysis focused on baseline evaluations for all participants.

Main Results:

  • Median age at diagnosis was 35 months, with a 24-month delay from symptom onset.
  • Common initial symptoms included speech/language delay (48%) and hearing loss (20%).
  • Over 93% experienced somatic symptoms; severe hearing loss and speech delay were characteristic, with cognitive decline by age 3.

Conclusions:

  • Sanfilippo syndrome type A presents with significant hearing and speech impairments, followed by rapid cognitive deterioration.
  • Somatic and behavioral issues, including sleep disturbances, are prevalent.
  • There is a critical need to reduce diagnostic delays and enhance clinician awareness of Sanfilippo syndrome type A.
Abstract

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