A Primary Care Approach to Constipation in Adults with Intellectual and Developmental Disabilities

Constipation is a condition that is very prevalent and is reported in up to 40 percent of individuals with intellectual and developmental disabilities (IDD). Constipation in this patient population is most commonly secondary to neuromuscular abnormalities, immobility, suboptimal diet, and medication side effects. History taking is frequently limited in adults with IDD due to communication barriers, often leading to a missed diagnosis of constipation. Inadequately treated constipation may lead to adverse effects including behavioral disturbances, fecal impaction, intestinal obstruction, and even death from intestinal perforation and sepsis. As a result, a high index of suspicion must exist for this patient population. Treatment in these patients requires an individualized approach, to reduce the constipation and its associated health complications.

Dispepsia funcional y gastroparesia: ¿dos entidades superpuestas? De la fisiopatología a la terapéutica

Functional dyspepsia and gastroparesis represent the most common sensory-motor disorders of the upper gastrointestinal tract. Scientific advances in the last decade have shown that there is significant overlap between them. This review aims to address current knowledge about their pathophysiology, diagnosis and treatment. Functional dyspepsia is a medical condition that is characterized by one or more of the following symptoms: early satiety, postprandial fullness, and epigastric pain or burning. The pathophysiological mechanisms involved are: the gastroduodenal motility and sensory abnormalities, the immune dysfunction, the duodenal inflammation, the gastrointestinal infections, the alterations in the gastrointestinal microbiota and the dysfunction of the gut-brain axis. The Rome IV criteria make possible to establish a presumptive diagnosis of functional dyspepsia in most patients, although it continues to be a diagnosis of exclusion that requires the performance of an upper digestive video endoscopy to confirm it. The recommended therapeutic options are: the eradication of Helicobacter pylori, the proton pump inhibitors, the tricyclic antidepressants and prokinetics. Gastroparesis is a chronic disorder characterized by delayed gastric emptying in the absence of a mechanical obstruction. The pathophysiology is caused by neuromuscular abnormalities of gastric motor function. Gastric emptying scan is the current gold standard for diagnosis. The mainstays of treatment are restoration of hydration and nutrition, and pharmacological treatment with prokinetics and antiemetics.

Characteristics of Functional Speech Sound Disorders in Korean Children

Purpose: A speech sound disorder (SSD) is defined as the presence of a problem with articulation and phonological processes in a child. This study analyzed the clinical characteristics of Korean patients with functional SSDs without any neuromuscular abnormalities. Methods: The medical records of patients aged 36 to 72 months old who were diagnosed with SSDs were retrospectively reviewed. SSD patients who scored less than 85 in the U-Tap test were divided into two groups according to their receptive language scores on the PRES/SELSI. Results: Sixty-seven percent of patients with language impairment (LI) who were diagnosed with an SSD initially visited the hospital for a delay in language development (n=18, 66.7%). Among children with only an SSD, 26.7% (n=8) of the patients recognized it as a language developmental problem. All SSD patients had substitution errors in the onset of initial syllables (SSD, SSD+LI: 100%; typical development [TD]: 37.5%). Of particular note, SSD children with LI had more omission errors (55.6%) than patients with SSD only (16.7%). SSD patients had higher error rates than TD children in all consonants except for the glottal element (P<0.01). The lower the U-Tap score of SSD patients, the lower their expressive language score (P<0.001). Conclusion: A high percentage of children with SSD initially visited the hospital for the treatment of language development delays. Articulation tests are essential for children who suffer from language delay. Furthermore, since incorrect articulation can lead to delays in expressive language development, early interventions should be considered.

Rare Abnormality of the Posterior Fossa: Unilateral İsolated Cerebellar Hypoplasia

The cerebellum abnormalities may be hypoplastic, dysplastic, or hypoplastic. It is very rare that the cerebellar hemisphere is affected unilaterally in the posterior fossa abnormalities. The reason for this effect is mostly sequela. This pathology presents with neuromotor developmental abnormalities. In this presentation, isolated left cerebellar hypoplasia is described radiologically in a 21-month-old male patient with neuromotor development defects. Dysplastic appearance was noticeable in the observable part of the left cerebellar hemisphere and folia. The cerebellar vermis could not be shaped. The right cerebellar hemisphere, other posterior fossa formations, and supratentorial area were natural. In patients with neuromuscular abnormalities, the posterior fossa is applied with care. It should be remembered that cerebellar hypoplasia and dysplasia can be unilateral.

Pathogenesis of Diverticulosis and Diverticular Disease

In this session different problems regarding the pathogenesis of diverticular disease were considered, including “Genetics”, “Neuromuscular function abnormalities”, “Patterns of mucosa inflammation”, and “Impact of lifestyle”. The patients affected by diverticular disease have clear genetic pattern, that might predispose to the occurrence of the disease as well as to its complications. Neuromuscular abnormalities may be recognized already at the stage of diverticulosis, and inflammation may explain symptoms occurrence in symptomatic uncomplicated diverticular disease (SUDD) or symptoms persistence after an episode of acute diverticulitis. Finally, lifestyle might also have an impact on symptoms’ occurrence. Specifically smoking, but also obesity seem to play an important role, while the role of low-fiber diet and constipation is now under debate.

Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo

A common pathological hallmark of amyotrophic lateral sclerosis (ALS) and the related neurodegenerative disorder frontotemporal dementia, is the cellular mislocalization of transactive response DNA-binding protein 43 kDa (TDP-43). Additionally, multiple mutations in the TARDBP gene (encoding TDP-43) are associated with familial forms of ALS. While the exact role for TDP-43 in the onset and progression of ALS remains unclear, the identification of factors that can prevent aberrant TDP-43 localization and function could be clinically beneficial. Previously, we discovered that the oxidation resistance 1 (Oxr1) protein could alleviate cellular mislocalization phenotypes associated with TDP-43 mutations, and that over-expression of Oxr1 was able to delay neuromuscular abnormalities in the hSOD1G93A ALS mouse model. Here, to determine whether Oxr1 can protect against TDP-43-associated phenotypes in vitro and in vivo, we used the same genetic approach in a newly described transgenic mouse expressing the human TDP-43 locus harbouring an ALS disease mutation (TDP-43M337V). We show in primary motor neurons from TDP-43M337V mice that genetically-driven Oxr1 over-expression significantly alleviates cytoplasmic mislocalization of mutant TDP-43. We also further quantified newly-identified, late-onset neuromuscular phenotypes of this mutant line, and demonstrate that neuronal Oxr1 over-expression causes a significant reduction in muscle denervation and neuromuscular junction degeneration in homozygous mutants in parallel with improved motor function and a reduction in neuroinflammation. Together these data support the application of Oxr1 as a viable and safe modifier of TDP-43-associated ALS phenotypes.