Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses
| Autor: | Annarita Pittalà, Alessandra Pellico, Rita Barone, Serena Gasperini |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Assessment Behavior Cognition Mucopolysaccharidoses Adolescent Review Brain tissue 03 medical and health sciences 0302 clinical medicine Intellectual disability medicine Humans Child skin and connective tissue diseases Hurler syndrome business.industry lcsh:RJ1-570 nutritional and metabolic diseases lcsh:Pediatrics medicine.disease Phenotype 030104 developmental biology Developmental trajectory Neurodevelopmental Disorders Autism spectrum disorder Child Preschool business Neurocognitive 030217 neurology & neurosurgery |
| Zdroj: | Italian Journal of Pediatrics Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 107-115 (2018) |
| Popis: | Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuronopathic MPS such as MPS IH, MPS II, MPS IIIA–D, and MPS VII are characterized by neurocognitive regression. In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to 4 years of age and then progressively regresses with aging. Patients with neuronopathic MPS II have a plateau of cognitive and adaptive development on average by 4 to 4.5 years of age, although there is significant variability, followed by progressive neurocognitive decline. In patients with classic MPS III, developmental trajectory reaches a plateau around 3 years of age, followed by regression. Sleep disturbances and behavioral problems occur early in MPS II and III with features of externalizing disorders. Acquired autism-like behavior is often observed in children with MPS III after 4–6 years of age. Impaired social and communication abilities do occur, but MPS III children do not have restricted and repetitive interests such as in autism spectrum disorder. MPS type VII is an ultra-rare neuronopathic MPS with a wide clinical spectrum from very severe with early mortality to milder phenotypes with longer survival into adolescence and adulthood. Most patients with MPS VII have intellectual disability and severely delayed speech development, usually associated with hearing impairment. Cognitive regression in neuronopathic MPS runs parallel to a significant decrease in brain tissue volume. Assessment of the developmental profile is challenging because of low cognitive abilities, physical impairment, and behavioral disturbances. Early diagnosis is crucial as different promising treatment approaches have been extensively studied in animal MPS models and are currently being applied in clinical trials. |
| Databáze: | OpenAIRE |
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