Recent scientific articles relevant to Sanfilippo Syndrome: September 2022, digest

September 30, 2022

Every week thousands of scientific articles on various topics are published. Here are some recent articles and abstracts that are relevant to understanding, managing, and/or treating Sanfilippo Syndrome (mucopolysaccharidosis III or MPS III) as of September 2022.

“Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants”

Published: International Journal of Molecular Sciences, Sept. 1, 2022 Authors: Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin Abstract: “Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other types of MPS have autosomal recessive inheritance in which two copies of an abnormal allele must be present in order for the disease to develop. In this study, we present the status of variant alleles and biochemistry results found in infants suspected of having MPS I, II, IVA, and VI. A total of 324 suspected infants, including 12 for MPS I, 223 for MPS II, 72 for MPS IVA, and 17 for MPS VI, who were referred for MPS confirmation from newborn screening centers in Taiwan, were enrolled. In all of these infants, one specific enzyme activity in dried blood spot filter paper was lower than the cut-off value in the first blood sample, as well asin a second follow-up sample. The confirmatory methods used in this study included Sanger sequencing, next-generation sequencing, leukocyte enzyme fluorometric assay, and GAG-derived disaccharides in urine using tandem mass spectrometry assays. The results showed that five, nine, and six infants had MPS I, II, and IVA, respectively, and all of them were asymptomatic. Thus, a laboratory diagnosis is extremely important to confirm the diagnosis of MPS. The other infants with identified nucleotide variations and reductions in leukocyte enzyme activities were categorized as being highly suspected cases requiring long-term and intensive follow-up examinations. In summary, the final confirmation of MPS depends on the most powerful biomarkers found in urine, i.e., the quantification of GAG-derived disaccharides including dermatan sulfate, heparan sulfate, and keratan sulfate, and analysis of genetic variants can help predict outcomes and guide treatment.” Read more: Access the publication

“Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial”

Published: Orphanet Journal of Rare Diseases, Sept. 2, 2022 Authors: Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin Abstract: “Methods: Mono-center randomized clinical trial conducted between February 2020 and April 2021. Fourteen parents (N = 7 mothers, N = 7 fathers) of mucopolysaccharidosis type III patients reporting PTSD symptoms on a (sub)clinical level were assigned to EMDR or a wait-list control condition followed by EMDR. Four sessions of EMDR (each 90 min) divided over two half-days were offered. Measurements were conducted at baseline, post-treatment/post-waitlist, and 3-months post-treatment. The primary outcome was PTSD symptom severity (PTSD Check List for DSM-5). Secondary outcomes included comorbid psychological symptoms (Brief Symptom Inventory), distress (Distress Thermometer for Parents) and parenting stress (Parenting Stress Questionnaire). Between-group comparisons pre-to-post treatment (N = 7 EMDR vs. N = 7 wait-list) and within-group comparisons (EMDR, N = 14) from pre-to-post treatment and from pre-treatment to 3-months follow-up were carried out per intent-to-treat linear mixed model analyses.” “Results: Compared to wait-list, EMDR resulted in a significant reduction on total PTSD symptom severity (d = 1.78) and on comorbid psychological symptoms, distress and parenting stress (d = .63–1.83). Within-group comparisons showed a significant effect on all outcomes at post-treatment (d = 1.04–2.21) and at 3-months follow-up (d = .96–2.30) compared to baseline. EMDR was well-tolerated, associated with a low drop-out rate, a high therapy adherence and no adverse events.” “Conclusion: Time-limited EMDR reduces PTSD symptoms, psychological comorbidity, distress and parenting stress in parents of children with a rare progressive life-limiting illness. This treatment was feasible for these overburdened parents. Recurrent monitoring of PTSD symptoms, and, if needed, offering this time-limited type of trauma treatment should be introduced in everyday pediatric practice.” Read more: Access the publication

“Comparison of growth dynamics in different types of MPS: an attempt to explain the causes”

Published: Orphanet Journal of Rare Diseases, Sept. 5, 2022 Authors: Agnieszka Różdżyńska-Świątkowska, Anna Zielińska, and Anna Tylki-Szymańska Abstract: “Conclusions: The long-term follow up showed that the growth pattern in patients with all types of mucopolysaccharidoses significantly deviates from the general population. Patients with MPS IVA had the most severe growth impairments compared to other patients in the study group. Neuropathic MPS I and II demonstrated severe growth impairments compared to other patients in this study. Patients with MPS III showed the mildest growth impairments compared to other MPS patients and reached the 3rd percentile last.” Read more: Access the publication
Source: All information is sourced directly from the scientific abstracts and articles published by the researchers.

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