Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

Abstract

BackgroundMucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate.MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is the ultimate goal of treatment, assessment of cognitive development will be essential in order to evaluate treatment efficacy. However, no large scale studies on cognitive levels in MPS III patients, using formal psychometric tests, have been reported.MethodsWe aimed to assess cognitive development in all 73 living patients with MPS III in the Netherlands.ResultsCognitive development could be assessed in 69 patients. In 39 of them developmental level was estimated > 3 months and formal psychometric testing was attempted. A remarkable variation in the intellectual disability was detected.ConclusionsDespite special challenges encountered, testing failed in only three patients. The observed broad variation in intellectual disability, should be taken into account when designing therapeutic trials.

Sanfilippo syndrome, glucose‐6‐phosphate dehydrogenase deficiency and sickle cell/β+ thalassemia in a child: The burden of consanguinity

“…Molecular study showed that the patient was homozygous for the mutation p.R245H. Our patient showed only mild manifestations of the disease; however, this mutation was previously reported in the severe phenotype of SS type A [Valstar et al, 2010[Valstar et al, , 2011.…”

Neuronopathic Types of Mucopolysaccharidoses: Pathogenesis and Emerging Treatments

“…Кроме того, по мнению многих исследователей, для достижения оптимального эффекта лечение должно быть начато на досимптомной стадии болезни, до начала необрати-мого повреждения ЦНС [10,16].…”

Atomoxetine Treatment for Attention Deficit and Hyperactivity Disorder Symptoms in a Child Who Has Mucopolysaccharidosis Type IIIB Disorder

“…MPS-IIIB is characterized by delay in speech, mental retardation, hyperactivity, aggressive behavior, incapability in social interaction skills, aimless hand movements, inappropriate and limited eye contact, sleep disturbances, retardation in growth, and facial phenotypic features [3].…”

“…In these children, some features of psychiatric symptoms might be seen such as severe hyperactivity, uncontrolled impulsivity, temper tantrums, quasi-autistic patterns, and severe anxious mood [4]. These symptoms have changeable natures in which some of them might be lessened and some could increase and worsen [3]. Many studies related to this disorder demonstrated that patients with MPS-III have experienced sleep disorders, hyperactivity, aggressive behavior, inappropriate mood, temper tantrum and behavioral problems similar to this and there was a correlation between cognitive retardation and behavioral problems [5].…”