intellectual disability and dysphagia

Dysphagia is an expressive symptom, described by an individual as "difficulty in swallowing." Dysphagia due to esophageal compression from an aberrant right subclavian artery is rare, and it is termed as "dysphagia lusoria." We present a rare case of co-occurrence of dysphagia lusoria with esophageal eosinophilia in a patient with cognitive disability which portends a case with diagnostic challenge and treatment dilemma. A 31-year-old man with intellectual disability, cerebral palsy, previous history of feeding difficulty, and esophageal food impaction presented with esophageal foreign body impaction...

Woodhouse-Sakati Syndrome is a very rare autosomal recessive disorder caused by pathogenic variants in the DCAF17 gene, which encodes DDB1- and CUL4-associated factor 17. It is a multisystemic disorder characterized by hypogonadism, adolescent- to young adult-onset diabetes mellitus, hypothyroidism, and alopecia. Neurologic involvement includes childhood-onset moderate bilateral sensorineural hearing loss, mild intellectual disability adolescent- to young adult-onset of extrapyramidal findings, dysarthria, and dysphagia...

Objectives: This study investigated levels of consumption, satisfaction and symptoms between patients given one of two texture modified models, (i) smoothed dishes prepared traditionally in a kitchen (CF), and (ii) homogenized meals obtained from dehydrated and rehydrated instantaneous preparations by means of special equipment (OI). Methods: The study is an observational cohort of 30 patients aged between 41-81 years old with complex disability, intellectual disabilities, dysmorphism and medium-gravity dysphagia, and psychiatric, neurological, gastroenterological and endocrine comorbidities...

Objectives: Long-term hospice dysphagic patients are at risk of malnutrition, often not wanting to consume meals. Difficulties in preparing meals for these patients can include variability in manually prepared recipes, the need for varied and appetizing menus and dishes, and time restrictions for administering food.This study investigated two feeding models, (i) smoothed dishes prepared traditionally in a kitchen (CF), and (ii) meals obtained from dehydrated and rehydrated preparations by means of special equipment (OI)...

BACKGROUND: Dysphagia is potentially life-threatening and highly prevalent in people with severe/profound intellectual and multiple disabilities (SPIMD). The "Signaleringslijst Verslikken" (SV) is a frequently used Dutch screening tool to detect dysphagia. The aim was to examine the convergent validity of the SV for people with SPIMD. METHOD: Direct support staff completed the SV, with speech and language therapists scoring a validated tool, the Dysphagia Disorders Survey (DDS), for 41 persons with SPIMD, aged ≥50 years...

This is a comprehensive review of antipsychotic (AP)-induced dysphagia and its complications: choking and pneumonia. Areas covered: Four PubMed searches were completed in 2018. The limited literature includes: 1) 45 case reports of AP-induced dysphagia with pharmacological mechanisms, 2) a systematic review of APs as a risk factor for dysphagia, 3) reviews suggesting adult patients with intellectual disability (ID) and dementia are prone to dysphagia (APs are a risk factor among multiple others), 4) studies of the increased risk of choking in patients with mental illness (APs are a contributing factor), 5) naturalistic pneumonia studies suggesting that pneumonia may contribute to AP-increased death in dementia, and 6) naturalistic studies suggesting that pneumonia may be a major cause of morbidity and mortality in clozapine patients...

This study aimed to determine the significance of oral ingestion in tube-fed adults. Six males and three females (mean age 48.1 ± 12.4 years) with severe motor and intellectual disabilities were included in this study. The subjects were monitored for cerebral blood flow (CBF) by functional near-infrared spectroscopy imaging, gastric motor function by electrogastrography, and arterial oxygen saturation (SpO2 ) and pulse rate with a biological data monitoring device. The subjects were divided into two groups, settings A and B...

BACKGROUND: The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial dysmorphisms, congenital malformations, and increased risk of retinoblastoma. CASE PRESENTATION: Here, we report on a teenage boy with a mild phenotype characterized by obesity, hyperactivity, dysphagia, dysgraphia, sleep disturbance, and minor dysmorphic features (round face, bushy eyebrows, and stubby hands)...

Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins. Among these, PGAP3 mutations are associated with HPMRS type 4...

BACKGROUND: Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has yet to be reported. CASE PRESENTATION: We describe a young woman with spastic diplegia and intellectual disability who began to show progressive neurological deterioration from 12 years of age, with the onset of dystonia and tremor...

BACKGROUND: Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because of remarkably variable clinical presentations. The NPC Suspicion Index (NPC-SI) was developed to overcome this problem. Identifying preclinical cases is important for prevention and therapy. Here, we report three newly diagnosed NPC cases, one typical juvenile-onset case and the cases of two sisters with symptoms neurologically/psychiatrically indistinguishable from dystonia and schizophrenia, respectively...

Worster-Drought syndrome is a congenital, pseudobulbar paresis. There is no identified molecular etiology despite familial cases reported. The authors report a boy who was diagnosed with Worster-Drought syndrome due to longstanding drooling, dysphagia, and impaired tongue movement. Magnetic resonance imaging of the brain was unrevealing. At 14 years old, he remains aphonic with normal facial and extraocular movements. Nonsense mutations in the LINS gene, p.Glu366X and p.Lys393X, were found. Results from neuropsychological testing at 14 years old were consistent with a diagnosis of intellectual disability and revealed nonverbal reasoning skills at a 5-year-old level with relative sparing of his receptive vocabulary and visual attention...

A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus...

Life grids have been used in qualitative studies for the last two decades. They provide an activity which researcher and participant can focus their attention on, help build rapport, and reduce the control the researcher may hold within a session. Here we describe the novel use of life grids at the end of a data collection phase. Used in this previously unreported way, life grids assisted the closure of the data collection phase by summarizing the data collection and marking departure from the field. Creation of a life grid produced a tangible outcome, evidencing the work undertaken within the data collection period...

BACKGROUND: Many people with intellectual disabilities use long-term antipsychotics for challenging behaviour and experience side-effects from these drugs, which may affect Health-related Quality of Life (HQoL). AIMS: This study aimed to investigate HQoL in people with intellectual disabilities who use long-term antipsychotics and to investigate its associations with challenging behaviour and physical symptoms often associated with antipsychotics. MATERIALS AND METHODS: We used baseline data of two studies of long-term used antipsychotics...

Dysphagia (feeding and swallowing disorder) is associated with serious health complications and psychosocial sequelae. This review summarizes international research relating to the prevalence of dysphagia in people with intellectual disability. Studies published from 1990 to July 2016 were identified using Medline, Cinahl, PsycINFO, Web of Science, email requests, and cross-citations. Twenty studies were identified. Dysphagia in people with intellectual disability appears to be associated with more severe levels of intellectual disability, comorbid cerebral palsy, and motor impairments...

BACKGROUND: Risk assessments are needed to identify adults with intellectual and developmental disability (IDD) at high risk of choking and pneumonia. AIM: To describe the development and validation of the Choking Risk Assessment (CRA) and the Pneumonia Risk Assessment (PRA) for adults with IDD. METHODS: Test items were identified through literature review and focus groups. Five-year retrospective chart reviews identified a positive choking group (PCG), a negative choking group (NCG), a positive pneumonia group (PPG), and a negative pneumonia group (NPG)...

Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism""RDP""DYT12" as key words was reviewed...

BACKGROUND: Medically unexplained symptoms and signs are common in the general population and can respond to appropriate managements. We aimed to quantify the types and prevalence of unexplained symptoms and signs experienced by adults with ID and to determine the associated factors. METHOD: In a population-based study, 1023 adults with ID aged 16 and over had a detailed health assessment, which systematically considered symptoms and signs. Descriptive data were generated on their symptoms and signs...

PURPOSE: Dysphagia (difficulties in eating, drinking or swallowing) is associated with serious health complications and psychosocial sequelae. This review aims to summarise the state of the evidence regarding dysphagia in people with intellectual disabilities (excluding prevalence), identify gaps in the evidence base and highlight future research priorities. METHOD: Studies published from 1 January 1990 to 19 July 2016 were identified using Medline, Cinahl, PsycINFO, Web of Science, email requests and cross citations...