Mucopolysaccharidosis II, IV-A and VI: First Colombian Neuropsychological Characterization

Abstract

The Mucopolysaccharidosis [MPS] are a group of orphan or rare genetic diseases characterized by lysosomal storage disorders which are recognized by bone malformations and neuropsychological implications that have not been studied so far. For this reason, the first cross-sectional descriptive study of neuropsychological nature was conducted on variants of the disease, Hunter Syndrome [MPS II], Morquio A Syndrome [MPS IV A] and Maroteaux-Lamy syndrome [MPS VI] in 21 children and adolescents aged 3 to 19 years old, at the Colombian Association of Patients with Lysosomal Storage Diseases [ACOPEL, for its Spanish acronym] in Bogotá, Colombia. Results indicate that for the different types of MPS tested is not easy to make a neuropsychological characterization and generalize these results to other populations. However, MPS type II shows moderate to severe cognitive deficit with a compromise in psychomotor development. Morquio A presents average intelligence, and MPS type VI points to deficits partially related to sensory impairment, implying significant differences between them. It is important to continue carrying on this type of studies to achieve a better classification of these diseases according to their cognitive functioning from the neuropsychological perspective.

Mucopolysaccharidoses: Psychosocial Vulnerability of Family Caregiver

“…The study primary aim was to explore the psychosocial vulnerability of a group of family caregivers of patients with MPS and to identify coping strategies for caregivers of patients with MPS and their families. As regards the most common type of MPS in Colombia, the results show Morquio Syndrome (n=75) according to the literature 7,8,9,3,19 and the least common type Sanfilippo Syndrome (n=8). The impact on caregivers divided into two aspects remains an objective overload, which is due to the effort involved in the performance of care tasks, with the economic demands and social restrictions derived from them; and the subjective one, which refers to the dimension of the feelings and emotions caused by the care work.…”

“…worldwide, as well as the least frequent is type III with 0.17 cases and type VII. 7,8,9 MPS are a set of lysosomal storage disorders associated with the accumulation of glycosaminoglycans (GAG´s) in body tissues and organs, due to an enzymatic deficiency required for the degradation of cellular GAG`s. Clinical signs shared by MPS disorders include skeletal abnormalities such as kyphosis, scoliosis, pectus carinatum, valgus alteration of the knees, carpal tunnel syndrome, joint abnormalities, spinal cord compression, reduced growth, gross facial features, involvement in vision and hearing; and cardiorespiratory manifestations.…”

Educación e inclusión. Perspectivas desde la psicología educativa

“…Dentro de este grupo se encuentran los niños, niñas y adolescentes (NNA) con mucopolisacaridosis (MPS). Las MPS son enfermedades raras, huérfanas, de baja prevalencia, derivadas de una alteración en las enzimas que generan depósitos lisosomales, de carácter genético, que se reconocen por malformaciones óseas, manos en forma de garra, macroglosia y agrandamiento de algunos órganos como el hígado, bazo y corazón (Castañeda-Ibáñez et al, 2019;Castañeda-Ibáñez y Acosta-Barreto, 2016).…”