The parents or the chief caregivers were interviewed for functional status using WeeFIM at the last registered date in September 2002. A total of 37 patients in our cohort of 83 patients had their diagnosis confirmed with molecular analyses. The clinical course is variable. Our objective is to study the survival pattern and functional status of SMA children in Hong Kong. The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. None of our patients with type III SMA died.

Find NCBI SARS-CoV-2 literature, sequence, and clinical content: We had reported the survival pattern and functional status of patients with SMA in Hong Kong. However, except for SMA type IIIb, a significant proportion of patients still need assistance or supervision in the area of problem solving.

Furthermore, the classification did not predict the duration of preserved motor functions, eg, ability to sit and ability to walk. Jones CC, Cook SF, Jarecki J, Belter L, Reyna SP, Staropoli J, Farwell W, Hobby K. J Neuromuscul Dis. Despite a prenatal onset attested by severity at birth and signs of fetal akinesia deformation sequence, prenatal manifestations of type 0 SMA are not specific and not constant. In this study, we adopted the criteria of Zerres and the 59th ENMC international Workshops.4 The modification in definition includes. Results. Motor neuron biology and disease: A current perspective on infantile-onset spinal muscular atrophy. 2020;7(1):33-40. doi: 10.3233/JND-190399. This project was funded by Families of Spinal Muscular Atrophy in Hong Kong (M.L. A total of 36 in our cohort of 83 patients had the diagnosis confirmed with molecular analyses. Remember that NPA has a duration of 90 days.

The prevalence of SMA in southern Chinese is 1 in 53 000. Pradhan Mantri Garib Kalayan Yojana – Components. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. Objective. All SMA III patients were surviving at the time of study.

You will be redirected to to login or to create your account. Among them, 39 active patients were recruited for the administration of Functional Independence Measure for Children (WeeFIM) with informed consent. Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM. We thank Stella Hui, BSc, MMedSci, and Wilfred Wong, BSc, MMedSci, for statistical and technical support and all parents and patients with SMA for participation. SMA is the second most common inherited neuromuscular disease in our database collected for Chinese children.1 The Families of SMA (FSMA) was founded in Hong Kong in 20005,7 with the objectives of promoting public awareness, providing financial support to needy patients and families, and establishing a central registry of SMA patients in Hong Kong. Website of FSMA Charitable Trust. Epub 2004 Feb 13.

Parents were interviewed for demographic and clinical data, including age of onset, gender, family history, motor milestones, disease progression, loss of function, respiratory involvement, and bulbar involvement.

The American Academy of Pediatrics recognizes the harm racism causes to infants, children, adolescents, and their families. Spinal muscular atrophy (SMA) is a common neuromuscular disease. There was a lack of inclusion of the best lifetime functional status of any child with SMA. Methods. Conclusion: ‘Special Mention’ category of assets is not only on the basis of non-repayment or overdue position but also due to other factors that reflect sickness/irregularities in the account (SMA -NF). The cognition domain assesses the child in terms of comprehension, expression, social interaction, problem solving, and memory. The classification of Special Mention Accounts (SMA) was introduced by the RBI in 2014, to identify those accounts that has the potential to become an NPA/Stressed Asset. The disease develops only if both copies of the SMN1 gene, one inherited from the mother and one from the father, are mutated.

The cognition domain assesses comprehension, expression, social interaction, problem solving, and memory. The current classification of SMA, emphasized on the age of onset, motor developmental milestones, and age of death, did not address the functional status of SMA patients. Characteristics of SMA in Hong Kong (N = 83). [1] [2] [5] Death due to respiratory complications occurs within weeks of birth, and survival beyond six months of age has not been observed. NIH The probabilities of retaining the ability to walk with assistance for 100 meters from disease onset up to 40 years for SMA III patients are summarized in Table 3 and Fig 2. The parents or the chief caregivers were interviewed by a trained research assistant (S.H.) It was introduced as a corrective action plan to contain stress.

On the other hand, the worst type of special mention account (SMA – 2) has less than 90 days’ duration. We adopted the classification of SMA from previous studies in which the criteria were based on the International SMA consortium (1992) with modifications according to the 59th European Neuromuscular Center International Workshops. SMA-0 Principal or interest payment not overdue for more than 30 days but account showing signs of incipient stress, Delay of 90 days or more in (a) submission of stock statement / other stipulated operating control statements or (b) credit monitoring or financial statements or (c) non-renewal of facilities based on audited financials. For those who died were 16 SMA I and 4 SMA II.

Type III SMA patients can walk without support.

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion. With advances in medical care, such as effective antibiotics for recurrent pneumonia and ventilatory support for respiratory failure, there is now a higher chance of survival. Only 2 studies of the natural history of SMA patients were available4,15 from literature. 2019 Sep;181(3):288-299. doi: 10.1002/ajmg.c.31721.

Epub 2019 Aug 31.

Data from 16 patients were reviewed.

Moreover, the overall functional and rehabilitative aspects of SMA children has also been improved over the past decades.

We found that there was improvement in survival in SMA patients as compared with other studies. The diagnosis of SMA was made from clinical history, serum muscle enzyme, electromyography, muscle biopsy, and, recently, by molecular studies. As only SMA patients with childhood onset were studied, we did not include any type IV patients in our study. COVID-19 is an emerging, rapidly evolving situation.

It has been used in children with various acute and chronic neurodevelopmental disorders,11,12 and its Chinese version has been validated.13,14. 2019 Dec 4;27(12):2123-2133. doi: 10.1016/j.ymthe.2019.08.017. P < .05 is considered statistically significant. Keywords: The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. Spinal muscular atrophy (SMA) is common. Economic Survey’s Philosophical Chapters –key points in brief, Quarterly growth warns deep slowdown knocking on the door, Two solid proofs that budget 2020 is going to be expansionary. Stair management was the major obstacle for independence in mobility for SMA patients of all 3 types.  |  For type II SMA (n = 26), the survival probabilities at 1, 2, 4, 10, and 20 years were 100%, 100%, 100%, 92%, and 92%, respectively. Probability of SMA III patients' being ambulatory after disease onset. eCollection 2020. Comparison of SMA Patients Who Did and Did Not Participate in the WeeFIM Interview. Am J Med Genet A. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Severe respiratory problems are common in infants with type 0 SMA, and few live longer than six months after their birth.

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs. Bathing and dressing (upper and lower body) were items with which most SMA children required help or supervision. View the collection | Find AAP resources here. WeeFIM profile of patients with SMA I (n = 4), II (n = 15), IIIa (n = 9), and IIIb (n = 11). ‘Special Mention Accounts’ (SMA).

DOI:, DKCH, Duchess of Kent Children's Hospital, WeeFIM, Functional Independence Measure for Children, International Classification of Impairments, Disabilities, and Handicaps: A Manual of Classification Relating to the Consequences of Diseases, Cerebral Lymphoma in an Adenosine Deaminase–Deficient Patient With Severe Combined Immunodeficiency Receiving Polyethylene Glycol–Conjugated Adenosine Deaminase, Disparate Clinical Presentation of Neonatal Hemochromatosis in Twins, Randomized Trial of the Early Start Program of Home Visitation, Follow American Academy of Pediatrics on Instagram, Visit American Academy of Pediatrics on Facebook, Follow American Academy of Pediatrics on Twitter, Follow American Academy of Pediatrics on Youtube, Functional Independence Measure for Children,, Copyright © 2004 by the American Academy of Pediatrics.


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