Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

Bhattacharya, Kaustuv; Balasubramaniam, Shanti; Fietz, Michael; Fu, Antony; Inwood, Anita; Jin, Dong‐Kyu; Kim, Ok-Hwa; Kosuga, Motomichi; Kwun, Young Hee; Lin, Hsiang‐Yu; Lin, Shuan‐Pei; Mendelsohn, Nancy J.; Okuyama, Torayuki; Samion, Hasri; Tan, Adeline; Tanaka, Akemi; Thamkunanon, Verasak; Thong, Meow‐Keong; Toh, Teck-Hock; Yang, Albert D.; McGill, Jim

doi:10.1016/j.ymgme.2015.03.005

Cited by 14 publications

(9 citation statements)

References 16 publications

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“…Similar to ours, several studies from different countries showed that the diagnosis was established on average 2-3 years after the onset of symptoms (20,(25)(26)(27)(28)(29). In a case of MPS, since patients exhibit different organ/system manifestations, they present to physicians from different branches including pediatricians, geneticists, cardiologists, ophthalmologists, orthopedists, and neurosurgery, and are diagnosed with different disorders such as primary valvular heart disease, Perthes disease, congenital talipes equinovarus, spondyloepiphyseal dysplasia, cataract, rheumatoid arthritis, craniosynostosis, pseudoachondroplasia, and inguinal hernia (23,27,29,30). In a study, patients were detected to be evaluated by 5 physicians on average before the diagnosis was made (29).…”

Section: Discussionsupporting

confidence: 86%

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Kisa¹,

Köse²,

Ateşoğlu³

et al. 2017

jpr

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The Journal of Pediatric Research, published by Galenos Yayınevi. Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coarse facial features, organomegaly, and bone disease (dysostosis multiplex), with central nervous system abnormalities. Early diagnosis and treatment can improve outcomes in MPS. The aim of this study was to evaluate the demographic characteristics and clinical findings of our MPS patients. Materials and Methods: This is a retrospective study which included 27 MPS patients who were diagnosed and treated in our center. ABS TRACT ÖZ Results:The mean age of the group was 112.3±52.5 months (36-196 months); the mean onset age of symptoms was 40.8±30.6 months (4-112 months), and the mean time from symptom onset to diagnosis was 16.3±21.4 months (0-80 months). MPS subgroups were Type III in 13 (48%) patients, Type II in seven (26%), Type VI in four (15%), Type I in two (7%) patients and Type IV in one patient. Nine (33.3%) patients received enzyme replacement therapy (ERT). The mean duration of ERT was 31.3±21.5 months (9-67 months). Conclusion: MPS Type III was found to be the most common subgroup in our center. We can speculate that the mean time from symptom onset to diagnosis was found too long for MPS in which early diagnosis improves the prognosis. Increasing awareness of the disease in physicians encountering these patients in different clinics will be an important factor in the early diagnosis of the disease.

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Section: Discussionsupporting

confidence: 86%

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Kisa¹,

Köse²,

Ateşoğlu³

et al. 2017

jpr

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“…Asya-Pasifik bölgesinde yapılan çalışmadaki sonuçlar mevcut çalışmamız ile benzer idi (%44 kız, %56 erkek) (17). Tayvan'da yapılan bir çalışmada ise %40 kız, %60 erkek olarak belirtilmişti (18).…”

Section: Discussionunclassified

“…2015 yılında 18 MPS tip VI tanılı hastanın yer aldığı çalışmada akrabalık oranı %25 olarak bulunmuş (17). Bizim çalışmamızda akrabalık oranının yüksek olması, ülkemizdeki akraba evliliği oranının fazla olması nedeni ile olabilir.…”

Section: Discussionunclassified

Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)

Er¹,

Canda²,

Uçar³

et al. 2016

jpr

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“…Cleft lip/palate [60,61] Complex head trauma [62] Hirschsprung's disease [63] Spinal bifi da [64] Congenital Heart Diseases [65] Rheumatology-Fibromyalgia [66,67] Endocrine disorders Cushing syndrome, [68] Craniopharyngioma [58] Metabolic disorders Mucopolysaccharidosis (MPS) [10] Clinical Psychologist (1), Nephrologist (1), Podiatrist (1), Urologist (1), Plastic surgeon (1), Neurophysicist (1).…”

Section: Surgicalmentioning

confidence: 99%

“…Developmental assessment programs bene it from the involvement of a wide variety of professionals who are part of a multi-disciplinary team, each suitably skilled and prepared to meet the needs of the children and their families. Multidisciplinary and inter-professional approach has been documented to be effective in the management of many childhood situations spanning from healthy child surveillance to inpatient mental health care [9,10]. The primary care provides a unique area of potential ample opportunities for training and promotion of high-quality developmental surveillance [11].…”

Section: Introductionmentioning

confidence: 99%

A Multidisciplinary Approach to the Assessment and Management of Pre-school Age Neuro-developmental Disorders: A Local Experience

Ogundele¹

2017

Clin J Nurs Care Pract

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Background: Early and effective identifi cation of childhood neurodevelopmental disorders remains a critical task of all pediatric healthcare professionals, which is critical to the well-being of children and their families. Methods: A retrospective review of medical records of all preschool children referred to a Child Development Centre (CDC) in NorthWest England, over a six-month period between Sept 2014 and Feb 2015 was conducted. The local multi-professional approach to the clinical assessment and management of preschool children was described and the published literature on this topic was reviewed. Results: Twenty four different categories of professionals spanning the whole range of primary, secondary, and tertiary healthcare, social care and educational services were involved in the management of the patients. The largest group of professionals was the primary healthcare specialists. The ten different primary care professionals managed an average of 42% of the patients. The secondary healthcare providers were involved in the care of an average of 17%, tertiary care providers 10%, educational specialists 25% and social care professionals were involved with 5% of all the patients. The commonest diagnostic disorders were Speech/Language delay (56%), Global developmental delay (33%), Behavior diffi culties (26%), Social communication concerns (21%) and Autistic spectrum disorder (19%). Conclusion: The high number and specialties of various healthcare professionals at all levels of care indicates the high social and economic investment required in managing the affected preschool children in the region. Childhood neurodevelopmental disorders in the preschool age represents a high level of public health signifi cance.

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Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

Cited by 14 publications

References 16 publications

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)

A Multidisciplinary Approach to the Assessment and Management of Pre-school Age Neuro-developmental Disorders: A Local Experience

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