Genetics of Prader-Willi and Angelman syndromes: 2024 update.

Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.

Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.

The Arduous Path to Drug Approval for the Management of Prader-Willi Syndrome: A Historical Perspective and Call to Action.

Prader-Willi syndrome (PWS) is a neuroendocrine genetic disorder resulting from the loss of paternally expressed imprinted genes in chromosome 15q11-q13 [...

Diagnosis and management of sleep disorders in Prader-Willi syndrome.

Unlabelled: Clinical experience and a growing body of evidence suggest that sleep disturbances are common in people with Prader-Willi syndrome (PWS). PWS is a rare neuroendocrine disorder characterized by early hypotonia and feeding difficulties; developmental delays; endocrinopathies; and behavioral concerns, especially rigidity, anxiety, and behavioral outbursts. PWS is also characterized by decreased resting energy expenditure and transition to hyperphagia and obesity.

Cycloid Psychosis Comorbid with Prader-Willi Syndrome: A Case Series.

Psychosis is a relatively common psychiatric phenomenon seen in patients with Prader-Willi Syndrome (PWS). However, the presentation is atypical and difficult to classify within currently defined affective or psychotic disorders. This distinct presentation may be better understood as a phenomenon called "cycloid psychosis," described as an episodic psychosis with rapid full recovery between episodes.

The ALPIM (Anxiety, Laxity, Pain, Immune, and Mood) Syndrome in Adolescents and Young Adults: A Cohort Study.

Objective: ALPIM (anxiety, laxity, pain, immune, and mood) syndrome has been previously described in adults. The authors aimed to identify its occurrence in adolescents and confirm its existence in adults. Given the association of the disorder with somatic symptoms, separation anxiety disorder (SAD) was explored as an ALPIM comorbidity.

Guanfacine Extended Release for the Reduction of Aggression, Attention-Deficit/Hyperactivity Disorder Symptoms, and Self-Injurious Behavior in Prader-Willi Syndrome-A Retrospective Cohort Study.

To examine the role of Guanfacine Extended Release (GXR) in the management of behavioral disturbances in patients with Prader-Willi Syndrome (PWS). Twenty from a total of 27 individuals with genetically confirmed PWS, 6-26 years of age, with the following symptoms were identified: significant aggression/agitation, skin picking, and/or symptoms of attention-deficit/hyperactivity disorder (ADHD). Response to GXR for the above noted symptoms was categorized as improved, worsened, or unchanged, while assessing for side effects and tolerability.

The Impact of Designated Behavioral Health Services on Resource Utilization and Quality of Care in Patients Requiring Constant Observation in a General Hospital Setting: A Quality Improvement Project.

Constant observation (CO) is a common economic burden on general hospitals. A quality improvement (QI) project focusing on behavioral health (BH) management of this population was piloted using a novel BH protocol for the proactive assessment and management of all patients requiring CO. The impact on CO-cost and length of stay (LOS) was assessed.

A Proactive Behavioral Health Service Model to Address Use of Constant Observation in a General Hospital.

In hospitals, use of constant observation (CO) causes significant economic burden without demonstrated reduction in adverse events. A novel quality improvement (QI) project was developed to reduce use of CO by integrating proactive behavioral health management of all patients requiring CO in a general hospital. Specific nonpharmacologic and pharmacologic interventions used in this project, which included 491 patients, are discussed.

Obsessive-Compulsive Disorder in a 19-Year-Old Female Adolescent With Turner Syndrome.

Obsessive-compulsive disorder (OCD) in patients with Turner syndrome (TS) is an uncommon neuropsychiatric presentation that has not been well characterized in the scientific literature. Though no clear psychiatric component is syndromic to TS, the clinical manifestations of certain neuropsychiatric disorders, including mood, anxiety and eating disorders, have all been well documented in patients with TS. However, the presence of OCD in these patients has not been previously described.

Role of Ramelteon in Reduction of As-Needed Antipsychotics in Elderly Patients with Delirium in a General Hospital Setting.

Background And Objective: Abnormalities in melatonin levels have been linked to delirium. This dysregulation may be offset with the use of ramelteon, a melatonin receptor agonist. The purpose of this study was to evaluate the role of ramelteon in decreasing the need for as-needed (PRN) use of antipsychotics in elderly patients with delirium.

Protocol for Psychopharmacologic Management of Behavioral Health Comorbidity in Adult Patients with Diabetes and Soft Tissue Infections in a Tertiary Care Hospital Setting.

General Purpose: To provide information about the effect of psychiatric comorbidities on wound healing in patients with diabetes mellitus (DM).

Target Audience: This continuing education activity is intended for physicians, physician assistants, nurse practitioners, and nurses with an interest in skin and wound care.

Learning Objectives/outcomes: After participating in this educational activity, the participant should be better able to:1.

Pudendal nerve entrapment leading to avoidant/restrictive food intake disorder (ARFID): A case report.

Avoidant/restrictive food intake disorder (ARFID) is a diagnosis in diagnostic and statistical manual of mental disorders-5 (DSM-5) manifested by persistent failure to meet nutritional and/or energy needs. Pudendal nerve entrapment (PNE) often causes pelvic discomfort in addition to constipation and painful bowel movements. Current literature on ARFID is sparse and focuses on the pediatric and adolescent population.

Lacosamide Induced Psychosis: Case Report, Review of Differential Diagnosis and Relevant Pharmacokinetics.

Lacosamide (LCM) is an antiepileptic medication used as an adjunctive treatment for partial seizures. Psychosis associated with LCM use is a rarely documented phenomenon, which may be difficult to detect in the context of the often complicated clinical presentation of epilepsy. We report the development of psychosis in a young woman after the use of LCM, which subsequently resolved with its discontinuation.

A Novel Anxiety and Affective Spectrum Disorder of Mind and Body-The ALPIM (Anxiety-Laxity-Pain-Immune-Mood) Syndrome: A Preliminary Report.

The authors describe a spectrum disorder comprising a core anxiety (A) disorder and four domains: joint laxity (L), chronic pain syndromes (P), immune disorders (I), and mood disorders (M)-dubbed the ALPIM syndrome. This study examined 76 consecutive outpatients with an anxiety disorder plus at least one somatic condition from three domains. More than 80% of the patients had panic attacks, fibromyalgia, and major depressive episodes.