intellectual disability and dysphagia

Joubert syndrome (JS) is a rare autosomal recessive disease affecting the cilium, an intracellular organelle. It has a wide spectrum of presentations with the involvement of multiple genes. JS has multiple subtypes that are either pure JS or JS with other organ involvement such as the kidneys, liver, and others. However, all subtypes share the involvement of the cerebellar peduncles and the brainstem, which presents as "a molar tooth sign" on magnetic resonance imaging, hypotonia, and intellectual disability...

BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. The clinical diagnosis of AGS is difficult, which can lead to a high mortality rate. Overall, there is a lack of large-sample research data on AGS in China. We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic. METHODS: The genetic and clinical features of Chinese patients with AGS were collected...

BACKGROUND: The postoperative complications of mandibular fracture include malocclusion, infection, nonunion, osteomyelitis, and sensorial mental nerve dysfunction. However, there are no reports regarding postoperative dysphagia as a complication of mandibular fracture. Herein, we report a rare case of postoperative dysphagia caused by delayed mandibular fracture treatment in a patient with severe intellectual disability. CASE PRESENTATION: A 46-year-old Japanese male patient with severe intellectual disability fell down and struck his chin...

Aim: To determine the prevalence of common health conditions in adults with cerebral palsy (CP) and to identify associations with the CP subtype or the severity of impairments. Methods: A population-based, cross-sectional study of 153 adults with CP born from 1959 to 1978 (87 males, 66 females; median age 48 years 3 months, range 37-58 years; 41% with unilateral spastic, 36% bilateral spastic, 19% dyskinetic, and 4% with ataxic CP). Data was gathered through interviews, physical assessments, and medical record reviews...

BACKGROUND: Oral health maintenance is difficult to be achieved alone by patients with special needs and insufficient self-care skills. This study aims to investigate how the oral health issues of young adults with severe intellectual and developmental disabilities (IDD) affect caregiver burdens. METHODS: A qualitative research method was employed with semi-structured interviews conducted with 14 maternal caregivers of patients with severe IDD. Eleven young adults had neurofunctional disorders and three had autism spectrum disorders...

BACKGROUND: In European and North American countries, stunting and malnutrition are common in children with cerebral palsy (CP), especially those with multiple disabilities. The extent of this problem in children with CP in North African countries is still unknown. AIMS: To evaluate feeding problems and growth in a sample of North African multidisabled children with CP and to determine the factors associated with malnutrition in this population. METHOD: We conducted a cross-sectional study including multidisabled children with severe CP...

14q22q23 microdeletion syndrome, also called Frias syndrome, is an extremely rare partial deletion of the long arm of chromosome 14 characterized by the anomalies of the pituitary gland, eyes, and hand/foot. Intellectual disability and facial dysmorphism are other common manifestations. Haploinsufficiency of the genes bone morphogenetic protein 4 ( BMP4 ) and orthodenticle homeobox 2 ( OTX2 ) accounts for most of the phenotypic abnormalities seen in these patients. There are only a few cases reported with Frias syndrome in the literature, and there are multiple variations present, which are not well recognized due to different set of genes involved...

OBJECTIVES: Dysphagia is linked to mortality risk among patients with profound intellectual and multiple disabilities (PIMD); the present study therefore aimed to clarify the characteristics of hyoid movements during swallowing and to examine the mechanism of dysphagia in patients with PIMD. METHODS: A retrospective video fluoroscopic swallowing study was conducted on 43 patients with PIMD (mean age = 25.4; 25 males, 18 females) and 24 healthy adults (mean age = 44...

BACKGROUND: Children with Down syndrome are at risk for significant pulmonary co-morbidities, including recurrent respiratory infections, dysphagia, obstructive sleep apnea, and pulmonary vascular disease. Because the gold standard metric of lung function, spirometry, may not be feasible in children with intellectual disabilities, we sought to assess the feasibility of both airwave oscillometry and spirometry in children with Down syndrome. METHODS: Thirty-four children with Down syndrome aged 5-17 years were recruited...

The purpose of this literature review is to address the diagnosis and treatment of upper gastrointestinal (GI) disorders in patients with intellectual and developmental disabilities (IDD). Manifestations of upper GI dysmotility and disorders include dysphagia, pulmonary aspiration, malnutrition, gastroesophageal reflux, and gastritis, all of which can impact a person's quality of life and lead to chronic, life-threatening conditions. This article will explore the existing diagnostic methods and treatments for gastrointestinal disorders as they relate to patients with IDD...

BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. CASE REPORT: We describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She presented with an abrupt onset of upper limb dystonia and bradykinesia without tremor in parkinsonism, as well as dysarthria and dysphagia caused by prominent bulbar symptoms, at age 9...

Rubinstein-Taybi syndrome (RSTS; Online Mendelian Inheritance in Man® [OMIM® ] #180849, #613684; Orpha: 783 ) is a rare plurimalformative autosomal dominant genetic disorder that affects one in 100,000-125,000 newborns with equal male and female distribution. It is characterized by distinctive facial features, short stature, broad and often angulated thumbs and halluces, and moderate-to-severe intellectual disability. In addition to ocular, cardiac, renal, endocrinologic, neurological, and psychomotor abnormalities, RSTS individuals can present with several gastrointestinal symptoms such as feeding difficulties, gastroesophageal reflux, and constipation...

The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function PRPS1 variants and decreased PRPS activity: Arts syndrome (OMIM: 301835), Charcot-Marie-Tooth disease type 5 (CMTX5, OMIM: 311070), and nonsyndromic X-linked deafness (DFN2, OMIM: 304500). Hearing loss is present in all cases. CMTX5 patients also show peripheral neuropathy and optic atrophy. Arts syndrome includes developmental delay, intellectual disability, ataxia, and susceptibility to infections, in addition to the above three features...

BACKGROUND: Rapid spread of coronavirus disease 2019 (COVID-19) has affected people with intellectual disability disproportionately. Existing data does not provide enough information to understand factors associated with increased deaths in those with intellectual disability. Establishing who is at high risk is important in developing prevention strategies, given risk factors or comorbidities in people with intellectual disability may be different to those in the general population. AIMS: To identify comorbidities, demographic and clinical factors of those individuals with intellectual disability who have died from COVID-19...

BACKGROUND: esophageal manometry is the standard criterion for the evaluation of dysphagia and the diagnosis of a primary motor disorder of the esophagus in adults and children. AIMS: to describe the diagnosis according to the Chicago classification (CC) v3.0 in children with dysphagia, in whom an esophageal motility disorder was documented. The associated comorbidities were also determined. METHODS: an observational retrospective study was performed of 54 patients evaluated for dysphagia, who had undergone a high-resolution manometry (HREM)...

OBJECTIVES: To investigate mortality rates and causes in children and young people with intellectual disabilities. DESIGN: Retrospective cohort; individual record linkage between Scotland's annual pupil census and National Records of Scotland death register. SETTING: General community. PARTICIPANTS: Pupils receiving local authority-funded schooling in Scotland, 2008 to 2013, with an Additional Support Need due to intellectual disabilities, compared with other pupils...

Sea-blue histiocytes in bone marrow can be associated with a number of conditions and have indeed often been reported in Niemann-Pick diseases, mostly in Niemann-Pick type B, but also Niemann-Pick type C. Rarely, it was reported to be related to a progressive neurological condition. In this work, early bone marrow aspirations in a boy following the discovery of hepatosplenomegaly at 1 month of age and later isolated splenomegaly did not reveal abnormal cells (which is not uncommon). Numerous sea-blue histiocytes were found in a repeated exam when the child was 10-year old, at a time he had developed a progressive neurological condition with frequent falls, clumsiness, slow and slurred speech, intellectual disability, dystonic movements, and dysphagia...

ABSTRACT: Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition include failure to thrive, and developmental delay or intellectual disability. Additional symptoms consist of cognitive impairment, skeletal and dental abnormalities, delayed motor milestones, cardiomyopathy, dysphagia, and respiratory insufficiency. MLASA has previously been associated with mutations in pseudouridylate synthase 1 (PUS1) and YARS2...

Barrett's esophagus in children with peptic strictures has not been well characterized, and its prevalence is unknown. We report a case of peptic esophageal stricture with Barrett's esophagus in an adolescent patient who presented with dysphagia with recurrent episodes of vomiting and limited medical history. A 13-year-old male with mild intellectual disability was transferred to our facility due to a two-month history of dysphagia with recurrent episodes of vomiting and intolerance to both solids and liquids...

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...