Literature DB >> 29170079

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Maria L Escolar1, Simon A Jones2, Elsa G Shapiro3, Dafne D G Horovitz4, Christina Lampe5, Hernán Amartino6.   

Abstract

The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII. As these problems often place a significant burden on the family, proper management is important. This review summarizes current insights into behavioral and sleeping problems in MPS disorders and the most optimal management approaches, as presented and discussed during a meeting of an international group of experts with extensive experience in managing and treating MPS.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Behavior; Child behavior disorders; Lysosomal storage diseases; Mental disorders; Mucopolysaccharidoses

Mesh:

Substances:

Year:  2017        PMID: 29170079     DOI: 10.1016/j.ymgme.2017.09.010

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  11 in total

1.  Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.

Authors:  Thomas J Langan; Amy Barczykowski; Kabir Jalal; Laura Sherwood; Heather Allewelt; Joanne Kurtzberg; Randy L Carter
Journal:  JIMD Rep       Date:  2019-04-11

2.  Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.

Authors:  Alexandra Morrison; Esmee Oussoren; Tabea Friedel; Jordi Cruz; Nalan Yilmaz
Journal:  Orphanet J Rare Dis       Date:  2019-11-14       Impact factor: 4.123

Review 3.  Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidoses.

Authors:  Yuji Sato; Torayuki Okuyama
Journal:  Int J Mol Sci       Date:  2020-01-08       Impact factor: 5.923

4.  Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies.

Authors:  Karolina Pierzynowska; Lidia Gaffke; Magdalena Podlacha; Grzegorz Węgrzyn
Journal:  Int J Mol Sci       Date:  2020-02-10       Impact factor: 5.923

5.  Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.

Authors:  Karolina Pierzynowska; Arkadiusz Mański; Monika Limanówka; Jolanta Wierzba; Lidia Gaffke; Paulina Anikiej; Grzegorz Węgrzyn
Journal:  Mol Genet Genomic Med       Date:  2020-06-24       Impact factor: 2.183

6.  Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).

Authors:  N Guffon; M Pettazzoni; N Pangaud; C Garin; G Lina-Granade; C Plault; C Mottolese; R Froissart; A Fouilhoux
Journal:  Orphanet J Rare Dis       Date:  2021-01-31       Impact factor: 4.123

7.  Evaluating strategies to manage and endure challenging behaviors in mucopolysaccharidoses.

Authors:  Nathan Grant
Journal:  Orphanet J Rare Dis       Date:  2021-04-08       Impact factor: 4.123

8.  Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III.

Authors:  Anna A Abramova; Hrayr P Attarian; Snezhana M Dolgova; Alexandra I Belyakova-Bodina; Elena V Iakovenko; Amayak G Broutian
Journal:  Sleep Sci       Date:  2021 Jan-Mar

Review 9.  Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.

Authors:  Rita Barone; Alessandra Pellico; Annarita Pittalà; Serena Gasperini
Journal:  Ital J Pediatr       Date:  2018-11-16       Impact factor: 2.638

Review 10.  Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study.

Authors:  Frederik Hoffmann; Susanne Hoffmann; Kevin Kunzmann; Markus Ries
Journal:  Orphanet J Rare Dis       Date:  2020-10-02       Impact factor: 4.123

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