Health problems in children with profound intellectual and multiple disabilities: a scoping review

Braam WJ, Van Duinen-Maas M, Festen D, Van Gelderen I, Huisman S, Tonino M (2014) Medische zorg voor patiënten met een verstandelijke beperking [Medical care for patients with intellectual disability]: Prelum Houten

Bindels-de Heus KG, van Staa A, van Vliet I, Ewals FV, Hilberink SR (2013) Transferring young people with profound intellectual and multiple disabilities from pediatric to adult medical care: parents’ experiences and recommendations. Intellect Dev Disabil 51(3):176–189

Article  PubMed  Google Scholar 

Van Der Heide DC, Van Der Putten AAJ, Van Den Berg PB, Taxis K, Vlaskamp C (2009) The documentation of health problems in relation to prescribed medication in people with profound intellectual and multiple disabilities. J Intellect Disabil Res 53(2):161–168

Article  PubMed  Google Scholar 

Carnaby S, Pawlyn J (2009) Profound intellectual and multiple disabilities: meeting complex needs through complex means. Profound intellectual and multiple disabilities: Nursing Complex Needs 348–53.

Nakken H, Vlaskamp C (2007) A need for a taxonomy for profound intellectual and multiple disabilities. J Policy Pract Intel Disabi 4(2):83–87

Article  Google Scholar 

van Timmeren EA, van der Putten AA, van Schrojenstein Lantman-de Valk HM, van der Schans CP, Waninge A (2016) Prevalence of reported physical health problems in people with severe or profound intellectual and motor disabilities: a cross-sectional study of medical records and care plans. J Intellect Disabil Res 60(11):1109–18.

Sarneel MC, Penning C, Roukema J, Moll HA, Bindels-de Heus GCB, Evenhuis HM (2005) Inventarisatie van frequentie en redenen van ziekenhuisbezoek van kinderen met ernstige meervoudige beperkingen aan een Academisch Ziekenhuis. [Inventarisation of frequence and reasons of visits of children with profound intellectual and multiple disabilities to a university hospital]. Nederlands Tijdschrift voor Kindergeneeskunde 73(32-33)

Daamen JC, Derksen-Lubsen G, Rake JP (2018) Netwerkzorg voor kinderen met een complexe zorgbehoefte. Praktische Pediatrie 12(4).

Lahaije STA, Luijkx J, Waninge A, van der Putten AAJ (2023) Support needs of families with a child with profound intellectual and multiple disabilities. International J Dev Disabi 1–14.

Seliner B, Latal B, Spirig R (2016) When children with profound multiple disabilities are hospitalized: a cross-sectional survey of parental burden of care, quality of life of parents and their hospitalized children, and satisfaction with family-centered care. J Spec Pediatr Nurs 21(3):147–157

Article  PubMed  Google Scholar 

Robertson J, Hatton C, Emerson E, Baines S (2014) The impact of health checks for people with intellectual disabilities: an updated systematic review of evidence. Res Dev Disabil 35(10):2450–2462

Article  PubMed  Google Scholar 

Durbin J, Selick A, Casson I, Green L, Spassiani N, Perry A, Lunsky Y (2016) Evaluating the implementation of health checks for adults with intellectual and developmental disabilities in primary care: the importance of organizational context. Intellect Dev Disabil 54(2):136–150

Article  PubMed  Google Scholar 

May ME, Kennedy CH (2010) Health and problem behavior among people with intellectual disabilities. Behav Anal Pract 3(2):4–12

Article  PubMed  PubMed Central  Google Scholar 

Tricco AC, Lillie E, Zarin W, O’Brien KK, Colquhoun H, Levac D et al (2018) PRISMA Extension for Scoping Reviews (PRISMA-ScR): checklist and explanation. Ann Intern Med 169(7):467–473

Article  PubMed  Google Scholar 

Arksey H, O’Malley L (2005) Scoping studies: towards a methodological framework. Int J Soc Res Methodol 8(1):19–32

Article  Google Scholar 

Levac D, Colquhoun H, O’Brien KK (2010) Scoping studies: advancing the methodology. Implement Sci 5(1):69

Article  PubMed  PubMed Central  Google Scholar 

Wissing MBG, Ulgiati AM, Hobbelen JSM, De Deyn PP, Waninge A, Dekker AD (2022) The neglected puzzle of dementia in people with severe/profound intellectual disabilities: a systematic literature review of observable symptoms. J Appl Res Intellect Disabil 35(1):24–45

Article  PubMed  Google Scholar 

Ouzzani M, Hammady H, Fedorowicz Z, Elmagarmid A (2016) Rayyan–-a web and mobile app for systematic reviews. Syst Rev 5(1):210

Article  PubMed  PubMed Central  Google Scholar 

Peters M, Godfrey C, McInerney P, Munn Z, Tricco A, Khalil H (2020) Scoping reviews (2020 version). In: Aromataris E MZ, editor. JBI Manual for evidence synthesis 2020

Onoyama S, Hoshina T, Honjo S, Ihara K, Hara T (2013) Respiratory syncytial virus infection in children with severe motor and intellectual disabilities. Eur J Clin Microbiol Infect Dis 32(10):1353–1357

Article  CAS  PubMed  Google Scholar 

Proesmans M, Vreys M, Huenaerts E, Haest E, Coremans S, Vermeulen F, Feys H (2015) Respiratory morbidity in children with profound intellectual and multiple disability. Pediatr Pulmonol 50(10):1033–1038

Article  CAS  PubMed  Google Scholar 

O’Brien A, Marshall CR, Blaser S, Ray PN, Yoon G (2017) Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet 25(6):775–778

Article  CAS  PubMed  PubMed Central  Google Scholar 

Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J et al (2018) Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients. Pediatr Neurol 78:35–40

Article  PubMed  Google Scholar 

Borgione E, Lo Giudice M, Santa Paola S, Giuliano M, Di Blasi FD, Di Stefano V et al (2023) The mitochondrial tRNASer(UCN) gene: a novel m.7484A>G mutation associated with mitochondrial encephalomyopathy and literature review. Life (Basel) 13(2):554

CAS  PubMed  Google Scholar 

Campanozzi A, Capano G, Miele E, Romano A, Scuccimarra G, Giudice ED et al (2007) Impact of malnutrition on gastrointestinal disorders and gross motor abilities in children with cerebral palsy. Brain Develop 29(1):25–29

Article  Google Scholar 

Fattal-Valevski A, Ben Sira L, Lerman-Sagie T, Strausberg R, Bloch-Mimouni A, Edvardson S et al (2021) Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. Eur J Paediatr Neurol 32:40–45

Article  CAS  PubMed  Google Scholar 

Holenweg-Gross C, Newman CJ, Faouzi M, Poirot-Hodgkinson I, Bérard C, Roulet-Perez E (2014) Undernutrition in children with profound intellectual and multiple disabilities (PIMD): its prevalence and influence on quality of life. Child Care Health Dev 40(4):525–532

Article  CAS  PubMed  Google Scholar 

Kubota K, Adachi M, Fujii H, Saitsu H, Ohnishi H (2024) Spontaneous remission of epileptic seizures following norovirus infection in a patient with DNM1 encephalopathy. Cureus 16(5):e60748

PubMed  PubMed Central  Google Scholar 

Lancioni GE, Singh NN, O’Reilly MF, Sigafoos J, Oliva D, Smaldone A et al (2010) Promoting ambulation responses among children with multiple disabilities through walkers and microswitches with contingent stimuli. Res Dev Disabil 31(3):811–816

Article  PubMed  Google Scholar 

Li W, Zhou S (2023) Identification of a novel splicing variant in the phosphatidylinositol glycan class S (PIGS) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report. Transl Pediatr 12(3):514–520

Article  PubMed  PubMed Central  Google Scholar 

Mensch SM, Echteld MA, Evenhuis HM, Rameckers EAA (2016) Construct validity and responsiveness of Movakic: an instrument for the evaluation of motor abilities in children with severe multiple disabilities. Res Dev Disabil 59:194–201

Article  PubMed  Google Scholar 

Mol-Bakker A, Van der Putten AAJ, Krijnen WP, Waninge A (2024) Physical health conditions in young children with profound intellectual and multiple disabilities: the prevalence and associations between these conditions. Child: Care Health Dev 50(2):e13252.

Nakamoto T, Hoshina T, Ishii M, Yamada G, Kusuhara K (2022) Systemic corticosteroid as an adjunctive treatment for lower respiratory tract infection in children with severe motor and intellectual disabilities. J Infect Chemother 28(3):384–388

Article  PubMed  Google Scholar 

Ramirez N, Flynn JM, Casalduc F, Rodriguez S, Cornier AS, Carlo S (2012) Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia. J Child Orthop 6(3):199–203

Article  PubMed  PubMed Central  Google Scholar 

Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R et al (2023) Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscul Disord 33(1):50–57

Article  PubMed  Google Scholar 

Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C et al (2017) Not all SCN1A epileptic encephalopathies are Dravet syndrome: early profound Thr226Met phenotype. Neurology 89(10):1035–1042

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tadema AC, Vlaskamp C (2010) The time and effort in taking care for children with profound intellectual and multiple disabilities: a study on care load and support. Br J Learn Disabil 38(1):41–48

Article  Google Scholar 

Brug AT, Van der Putten AA, Vlaskamp C (2013) Learn and apply: using multi-sensory storytelling to gather knowledge about preferences and abilities of children with profound intellectual and multiple disabilities–three case studies. J Intellect Disabil 17(4):339–360

Article  PubMed  Google Scholar 

Tsuji M, Ikeda A, Tsuyusaki Y, Iai M, Kurosawa K, Kosaki K, Goto T (2023) Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy. Brain Dev 45(8):462–466

Article  CAS  PubMed 

留言 (0)

沒有登入
gif