intellectual disability and dysphagia

People with Intellectual Disability (ID) were more likely to contract COVID-19 infection and more likely to die from the consequences. However, there is no evidence on the long-term impact of COVID-19 infection in people with ID. Post-Covid Syndrome (PCS) is an established diagnosis that requires specialist clinical support. To date there is no data on how common PCS is in people with ID, or how symptoms present. Dysphagia is identified as a clinical marker because of the known association with PCS, and the clear objective diagnostic criteria applicable through specialist assessment...

BACKGROUND: One-third to half of people with intellectual disabilities suffer from chronic constipation (defined as two or fewer bowel movements weekly or taking regular laxatives three or more times weekly), a cause of significant morbidity and premature mortality. Research on risk factors associated with constipation is limited. AIMS: To enumerate risk factors associated with constipation in this population. METHOD: A questionnaire was developed on possible risk factors for constipation...

BACKGROUND: We investigated the prevalence of swallowing difficulties and associated factors in people with intellectual disability. METHODS: We included people aged 50+ receiving care for people with intellectual disabilities. The Dysphagia Disorder Survey (DDS) was used to assess swallowing difficulties. We determined the agreement between the DDS and swallowing difficulties in medical records. We used logistic regression analyses to explore associated factors...

CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the CTNNB1 gene. Due to paucity of data, this study intends to describe feeding issues and oral-motor dyspraxia in an unselected cohort of 10 patients with a confirmed molecular diagnosis. Pathogenic variants along with key information regarding oral-motor features were collected...

Autosomal recessive spinocerebellar ataxia 13 (SCAR13) is a neurological disease characterized by psychomotor delay, mild to profound intellectual disability with poor or absent language, nystagmus, stance ataxia, and, if walking is acquired, gait ataxia. Epilepsy and polyneuropathy have also been documented in some patients. Cerebellar atrophy and/or ventriculomegaly may be present on brain MRI. SCAR13 is caused by pathogenic variants in the GRM1 gene encoding the metabotropic receptor of glutamate type 1 (mGlur1), which is highly expressed in Purkinje cerebellar cells, where it plays a fundamental role in cerebellar development...

BACKGROUND: Poor oral health is common in adults with intellectual disabilities leading to risk of mouth and lung infections. Yet, little is known about the benefits of preventative oral health programs. OBJECTIVE/HYPOTHESIS: This prospective longitudinal experimental mixed methods study evaluated the efficacy of an oral health program aimed at improving knowledge and behaviours in adults with intellectual disabilities living in supported housing. METHODS: A 90-min training session was provided to residents and their staff at 12 houses (56 residents; 67 staff)...

PURPOSE: Adults born with intellectual disabilities (ID) and motor disabilities (MD) have higher risk of dysphagia and should be assessed to decrease risk of severe complications. However, standardised assessment tools in Swedish are lacking. METHODS: The Dysphagia Assessment Package (DAP) was cross-culturally translated from English to Swedish (DAP-SE) and tested for content validity by an expert group. Face validity was assessed by five speech and language therapist (SLT) during meal observations (n = 10), and the clinical relevance was reported in a study-specific questionnaire...

OBJECTIVE: Our study aimed to describe the prevalence and characteristics of gastrointestinal and eating problems in Dravet syndrome (DS) and other SCN1A-related seizure disorders and to determine the association between the occurrence of gastrointestinal and eating problems and core features of DS. METHODS: Gastrointestinal and eating problems were assessed with a questionnaire in a Dutch cohort of participants with an SCN1A-related seizure disorder. Associations between the number of gastrointestinal and eating problems and core features of DS, seizure severity, level of intellectual disability, impaired mobility, behavioral problems, and use of anti-seizure medication, were explored by multivariate ordinal regression analyses...

Foreign body ingestion is a common medical emergency that can affect individuals of all ages and can be caused by various factors, including accidental ingestion, psychiatric disorders, intellectual disabilities, and substance abuse. The most common site for foreign body lodgment is the upper esophagus, followed by the middle esophagus, stomach, pharynx, lower esophagus, and duodenum. This article provides a case report of a 43-year-old male patient with a history of schizoaffective disorder and an indwelling suprapubic catheter who presented to the hospital due to foreign body ingestion...

This study reports on a five-year data set about the deaths of 599 individuals in New South Wales Australia, who at the time of their death were living in out-of-home care. Analysis aimed to: i) gain a clearer understanding of place of death for people with intellectual disability; and ii) identify and analyse associated variables to investigate how well they predict place of death for this population. Hospital admissions, polypharmacy and living situation were the strongest standalone predictors of place of death...

BACKGROUND: Dysphagia can have serious health implications including choking and respiratory infection leading to poorer quality of life. People with intellectual disabilities are at higher risk of dysphagia related health complications and early death. Robust dysphagia screening tools are vital for this population. METHOD: A scoping review and appraisal of the evidence for dysphagia and feeding screening tools for use with people with intellectual disabilities was undertaken...

Many people with intellectual and developmental disabilities (IDD) were much more affected by COVID-19 than the average population. The morbidity in this population group was significantly higher due to the form of their housing and care as well as disability-associated health factors (such as Down's syndrome). This led, among other things, to a higher incidence of inpatient settings, a higher mortality rate among hospitalized patients, and a higher case fatality rate among certain subgroups...

BACKGROUND: This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes. METHODS: Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abnormalities, and gastrointestinal and respiratory assistance were evaluated in 27 patients with genetically diagnosed SURF1 deficiency. RESULTS: The mean (S.D.) age of symptom onset collected from 13 patients was 19...

KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A ( KAT6A ) gene. There are some differences in phenotype between KAT6A gene variants. This current case report describes a 1-month-old male infant that had a nonsense mutation in the KAT6A gene. Neither of his parents had the mutation. The proband had feeding difficulties and a physical examination revealed the following: moderate dysphagia, hypoplastic laryngeal cartilage, poor audio-visual response, poor head-up ability, no active grasping awareness, microcephaly, high arched palate and he was significantly behind other children of the same age...

Purpose : This paper relates to the Sustainable Development Goal (SDG) Life Below Water (SDG 14) and the need to consider Better Health and Well-Being (SDG 3) in interventions designed to reduce plastic straw waste. The aim of this paper is to explore the competing demands of saving the world's oceans and sea life from plastic straw waste, and simultaneously meeting the health and social needs of people with swallowing or physical disability who use plastic straws for drinking. Result : In order to meet both SDG 14 and not compromise SDG 3 there is a need for collaborative and interdisciplinary, person-centred, inclusive innovation approaches to finding suitable and acceptable alternatives to plastic straws...

This article deals with incidents which involved damages that could have been prevented. This includes patients who have been suffocated and have suffered irreversible damage, unfortunately, as far as we know, due to the powerlessness of the medical staff who did not act suitably. The disasters have happened as a result of upper respiratory airway obstruction by a blood clot (retropharyngeal hematoma) that developed as a complication after an anterior cervical surgery (spine/carotid artery) or after a sharp cervical injury...

PURPOSE: Choking on food is a leading cause of accidental death in several populations, including children, people with intellectual/developmental disability, and older adults in residential care facilities. One contributor to choking risk is incomplete oral processing and failure to convert food to a cohesive, nonsticky bolus with a maximum particle size that will not block the airway. Clinical tests of mastication do not evaluate properties of chewed food boluses. We characterized expectorated boluses, after oral processing, using methods developed by the International Dysphagia Diet Standardisation Initiative (IDDSI)...

Vesicle-associated membrane protein 2 ( VAMP2 ) and Agrin ( AGRN ) are crucial proteins in neurotransmission. VAMP2 is a vesicular protein that facilitates the exocytosis of neurotransmitters. At the same time, AGRN plays a critical role in the maintenance and function of neuromuscular junctions. Mutations in the signaling pathway of VAMP2 and AGRN impair proper signaling between the presynaptic and postsynaptic neurons, and can result in neurodevelopmental conditions known as global developmental delay (GDD)...

The study was aimed to define swallowing related problems of toddlers with Down syndrome (DS) by comparing toddlers with typically developing children (TDC). A total of 127 children (96 DS, 31 TDC), and their mothers included in the study. The presence of chewing disorders, food selectivity, drooling, coughing during swallowing was scored as ' absent' or 'present'. The Pediatric version of the Eating Assessment Tool-10 (PEDI EAT-10) was used to determine dysphagia symptom severity, and the Turkish version of the Feeding/Swallowing Impact Survey (T-FS-IS) was used to measure the impact of swallowing disorders on caregivers...

Birk-Barel intellectual disability dimorphism syndrome, also referred to as KCNK9 imprinting syndrome, is an exceedingly rare condition described in under 20 cases that presents with intellectual disability, hypotonia, scoliosis, dysphonia, dysphagia, and craniofacial dysmorphic features. The condition follows an autosomal dominant pattern of inheritance in the maternally expressed KCNK9 gene on chromosome 8. Due to the complexity of presentation, patients with Birk-Barel syndrome are optimally managed by a multidisciplinary team including a craniofacial surgeon...