Comprehensive Care for Adults with Down Syndrome in Primary Care Settings.

This review article aims to bridge the knowledge gap in providing comprehensive care to adults with Down syndrome (DS) in primary care settings. Despite the increasing prevalence of adults with DS, there is a significant lack of familiarity and comprehensive guidelines for their health care among primary care physicians. This often results in subpar health promotion, preventive screenings, and individualized care. This article attempts to provide guidance for healthcare providers on previsit preparation, clinic visit characteristics, testing and screening considerations, and decision making/guardianship for adults with DS. By emphasizing a patient-centered approach, this review aims to enhance the quality of care, reduce associated morbidity and mortality, and ultimately improve the health outcomes of adults with DS.

A Case of Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia in a 26-Year-Old Pregnant Woman.

Acute lymphoblastic leukemia (ALL) is an uncommon and rapidly progressing blood cancer originating in the bone marrow, characterized by the abnormal proliferation of immature lymphocytes. Although most cases of ALL are observed in children, the disease pattern shows two peaks: one in early childhood and another around the age of 50. Approximately a fifth to a third of adults diagnosed with ALL exhibit cytogenetic abnormalities involving the Philadelphia chromosome. Despite the existence of several studies on Philadelphia chromosome-positive ALL (Ph+ ALL), our case accentuates the use of a multi-disciplinary approach to treatment and involves a patient from a unique demographic.

Unlocking the World of Travel for Individuals With Intellectual and Developmental Disabilities.

This editorial explores the challenges faced by families with individuals with intellectual and developmental disabilities (IDD) when it comes to travel, drawing parallels with the difficulties experienced in attending routine doctor's appointments. The disruptions to routine, preparation of supplies, and the fear of unfamiliar environments often make travel seem like an unattainable dream for these families. Despite these challenges, some families showcase resilience and determination, managing to travel with their loved ones. The article emphasizes the inconsistency in experiences across families due to varying levels of cognition, adaptive functioning, financial means, and available support. It discusses the additional complications for families dealing with medical procedures, the scrutiny of strangers, and financial difficulties. The article suggests the crucial role of primary care physicians in facilitating travel for these families by performing pre-travel medical assessments, consulting social workers, and preparing comprehensive emergency plans. It proposes the need for collaboration between governments, the tourism industry, advocacy groups, and the community to address these challenges. Ultimately, the article advocates for the empowerment of families with IDD individuals to enjoy the world as tourists, with the support of their primary care providers.

Hearing Loss Diagnosis and Management in Adults with Intellectual and Developmental Disabilities.

Hearing loss is a common concern in patients with intellectual and developmental disabilities (IDD), and early detection and intervention are crucial to prevent negative impacts on communication, cognition, socialization, safety, and mental health. Despite a lack of the literature specifically focused on hearing loss in adults with IDD, there is a substantial body of research demonstrating the prevalence of hearing loss in this population. This literature review examines the diagnosis and management of hearing loss in adult patients with IDD, with a focus on primary care considerations. Primary care providers must be aware of the unique needs and presentations of patients with IDD to ensure appropriate screening and treatment. This review highlights the importance of early detection and intervention, as well as the need for further research to guide clinical practice in this patient population.

Screening Echocardiography in Adults with Down Syndrome.

Down syndrome is the most common chromosomal disorder in the United States, occurring in about 14.14/10,000 births. It is associated with multiple medical anomalies, including cardiac, gastrointestinal, musculoskeletal, and genitourinary abnormalities, which increases the burden of morbidity for this patient population. Management is typically directed toward optimizing health and function throughout childhood and into adulthood; however, consensus regarding their management in adulthood is controversial. The burden of congenital cardiac diseases in children with trisomy 21 is well established, seen in more than 40% of cases. Although screening echocardiography is performed routinely within 1 month of birth, current consensus advocates for diagnostic echocardiography only in symptomatic adults with Down syndrome. Here, we advocate that screening echocardiography should be performed routinely in this patient population at all ages, particularly in late adolescence and early adulthood, because of a high percentage of residual cardiac defects and an increased risk of developing valvular and structural cardiac disease.

Special Considerations for Management of Diabetes in Adult Patients with Intellectual and Developmental Disabilities.

Diabetes mellitus (DM) is a chronic health condition that is very prevalent worldwide. It has been demonstrated that individuals with intellectual and developmental disabilities (IDDs) are at a disproportionately high risk for developing diabetes. Persons with IDDs are estimated to be 2-3 times more likely to develop DM compared to the general population. The elevated risk of developing diabetes within the population of adults with IDDs is multifactorial and includes contributions from genetics, lifestyle, medication use and misuse, boundaries to appropriate medical care, a higher incidence of comorbid mental health disorders, and others. Further, inadequate screening for and management of diabetes for these patients results in heightened risk for adverse cardiovascular events and inferior health care outcomes. To improve patient outcomes for this unique patient population, health care providers need to be well trained in the optimal modalities of screening, diagnosis, and management of diabetes in adults with IDDs. This requires the development of effective diabetes intervention and health promotion programs aimed at patients with IDDs, utilizing a patient-centered approach to screening and management, and conducting further research to assess the impact of these interventions.

Adrenal Infarction in Pregnancy Secondary to Elevated Plasma Factor VIII Activity.

Unilateral adrenal infarction is a rare cause of acute abdomen in pregnancy (AAP). Its presentation is non-specific and requires a high index of suspicion with a low threshold to obtain radiographic imaging for diagnosis. Evaluating AAP is challenging as diagnostic radiographic imaging is often limited in relation to radiation exposure to the developing fetus. We describe a case of a 24-year-old pregnant female who presented with severe acute abdominal pain. The patient's pain was refractory to intravenous analgesics and ultrasonography was inconclusive. Computed tomography (CT) scan was not obtained due to the risk of radiation exposure to the developing fetus. Due to the persistence of pain and suspicions for other serious etiologies, magnetic resonance imaging (MRI) was completed and the patient was diagnosed with acute unilateral adrenal infarction. In this case report, unilateral adrenal infarction was likely secondary to elevated plasma factor VIII levels. Even with the physiological elevation of factor VIII levels during pregnancy, levels greater than 150 IU/dL confer greater than five-fold increased risk of venous thrombosis. Once hemorrhage is excluded, patients should be started on therapeutic anticoagulation to prevent progression of adrenal infarct or infarction of the contralateral adrenal gland. Prompt recognition and treatment of acute adrenal infarction during pregnancy are of paramount importance to prevent adverse outcomes for both the mother and fetus.

Management of Muscle Spasms in Adult Patients with Cerebral Palsy.

As medical care advances, there is a growing number of adult patients with cerebral palsy. The spastic form is characterized by muscle hypertonicity, hyperreflexia, and spasticity, which are associated with worse quality of life, poor functionality, and pain. This literature review attempts to explore the existing treatments for spasticity in cerebral palsy to provide insight into potential treatments in the adult population. The types of treatments are broadly categorized into physical therapy, pharmacologic treatments, botulinum toxin, surgical treatments, and alternative options.

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.

Upper Gastrointestinal Disorders in Adult Patients with Intellectual and Developmental Disabilities.

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.

Sleep Disordered Breathing in Adults with Cerebral Palsy: What Do We Know So Far?

As advances in medicine continue to extend the lifespan of patients with cerebral palsy (CP), emphasis must be placed on evaluating patients for chronic health issues common in the general adult population. Sleep-disordered breathing (SDB) affects a large number of otherwise healthy adults and is even more common in individuals with disability. SDB includes the following subtypes: obstructive sleep apnea, central sleep apnea, and sleep-related hypoventilation/hypoxemia. SDB consequences include poor daytime functioning from sleepiness and an increased risk of cardiovascular morbidity and mortality. There is a paucity of data available in the literature about the association between SDB and CP in the adult population. More research is needed to understand the true prevalence and management strategies of SDB in patients with CP. This review focuses on three major subtypes of SDB: obstructive sleep apnea, central sleep apnea, and sleep-related hypoventilation/hypoxemia.

Etiology and Management of Behavioral Disorder in Adults With Intellectual and Developmental Disabilities.

Intellectual disability (ID) encompasses a wide variety of disorders that can severely affect an individual's cognitive, social, emotional, and physical development, even when identified early in life. Initially, individuals with such disorders had shorter life expectancies. However, medical advances have increased the life expectancy of individuals with ID similar to that of the general population. More attention must be paid to manage diseases affecting the intellectually disabled elderly, such as diabetes, cardiovascular disease, chronic constipation, and behavioral disorders.

Osteoporosis in Adult Patients with Intellectual and Developmental Disabilities: Special Considerations for Diagnosis, Prevention, and Management.

As medical care progresses, patients with intellectual and developmental disabilities are living longer and beginning to experience diseases that commonly afflict the aging population, such as osteoporosis. Osteoporosis and resultant fractures increase disability and threaten the independence of this vulnerable population. In addition, the diagnosis, prevention, and management of osteoporosis present unique challenges in these patients. Critical preventive targets include exercise modification, fall prevention, and monitoring for nutrient deficiencies. Commonly used in diagnosis and treatment monitoring, dual-energy x-ray absorptiometry (DXA) scan of the hip and spine may not be feasible, whereas peripheral DXA or computed tomography may be more accessible for patients with physical disabilities. Pharmacological treatment should be tailored to the individual patient, considering factors such as adherence and comorbidities. Finally, bone turnover markers are a noninvasive, cost-effective option for monitoring treatment response in patients who cannot undergo DXA.

Gynecological Care and Contraception Considerations in Women with Cerebral Palsy.

The purpose of this literature review was to further explore gynecological care and contraceptive use in women with cerebral palsy. We address barriers to pelvic examinations for cervical cancer screenings and current contraceptive methods in severely debilitated patients with cerebral palsy.

Avascular necrosis: a growing concern for the HIV population.

A 33-year-old woman with history of HIV presented with 4 months of gradually progressing right hip pain and was found to have avascular necrosis (AVN) of both femoral heads. She had no other risk factors for AVN including sickle cell disease, systemic lupus erythematosus, prolonged steroid used or trauma. She initially failed conservative management and ultimately had bilateral hip core decompressions. After decompression therapy, the left femoral head collapsed and patient underwent a left total hip arthroplasty. Her postsurgical course was complicated by the left sciatic nerve neuropathy for which she is currently being managed with duloxetine. She has yet to follow-up with her orthopaedic surgeon for further evaluation.

Rapid Onset of B12 Deficiency in the Setting of Worsening Multiple Myeloma: Correlations between B12 Deficiency and Multiple Myeloma.

A 67-year-old female with a relapse of multiple myeloma after being in remission for approximately 2 years following autologous stem cell transplant presented with worsening pancytopenia, over a three-month period. There were an increase in her monoclonal spike at 3.13 g/dL on serum protein electrophoresis, low serum B12 levels, and positive intrinsic factor antibodies. Three months before, she had normal B12 levels and a significantly lower monoclonal spike of 1.07 g/dL. She was diagnosed with B12 deficiency with pernicious anaemia in the setting of her worsening myeloma. Multiple myeloma (MM) has been linked with B12 deficiency and pernicious anaemia. Several mechanisms have been described regarding the pathogenesis of B12 deficiency in such patients. Increased tumour activity can further perpetuate the development of B12 deficiency in such patients. With regard to our case, the increase in tumour activity and onset of pernicious anaemia could have contributed to the rapid development of B12 deficiency. In contrast to this, rapid development of B12 deficiency could also signify relapse or worsening of the myeloma as seen in our case. Physicians ought to consider B12 deficiency in patients with worsening pancytopenia and myeloma.

Skin rash in the intensive care unit: Stevens-Johnson syndrome, toxic epidermal necrolysis, or a rare manifestation of a hidden cutaneous malignancy: A case report.

Skin rashes are infrequently encountered in the intensive care units, either as a result or as a cause of admission. The entities of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) form a spectrum of desquamating skin diseases that have multiple etiologies, the most common being drug-related reactions; very rarely, the cause may be cutaneous malignancies. We herein present a unique case of a 54-year-old male patient with psoriasis treated with methotrexate, who presented with a cellulitis-like clinical picture, then developed a severe progressive systemic inflammatory response syndrome, and progressed clinically to SJS, then TEN even after discontinuing the antibiotics and methotrexate. A skin biopsy demonstrated an aggressive and rapidly-progressing T-cell lymphoma. The present case highlights the necessity of skin biopsy when encountering SJS and TEN in the ICU in order to identify potentially treatable/controllable causes. Although it appeared reasonable to correlate TEN solely to medications, the skin biopsies clearly demonstrated an aggressive T-cell skin lymphoma. In a patient with a better general condition it may have been helpful to treat this malignancy. TEN is a life-threatening condition and skin biopsy is the cornerstone of diagnosis, despite the presence of multiple risk factors and the typical physical findings of a drug-induced reaction.

Spindle cell foci in the thyroid gland: an immunohistochemical analysis.

Spindle cell proliferations of the thyroid gland are uncommon lesions that encompass a wide spectrum of reactive, hyperplastic, and neoplastic processes. Spindle cells may occur in subsets of papillary carcinomas and follicular adenomas where they are thought to represent metaplastic foci. The goals of the present study are to further characterize the metaplastic nature of spindle cell foci of the thyroid (SCFT), to define their immunohistochemical profiles and to review their differential diagnoses. The study group included: multinodular goiter (2), follicular adenoma (2), and minimally invasive follicular carcinoma (2). SCFTs were composed of elongate cells with thin or slightly plump nuclei with finely granular chromatin and inconspicuous nucleoli. Rare mitotic figures were present but there was no necrosis or inflammation. All cases were positive for thyroglobulin, thyroid transcription factor (TTF)-1, and TTF-2. TTF-1 and TTF-2 had a characteristic nuclear localization although the intensity of staining for TTF-1 was consistently greater than that of TTF-2. Each of the 6 cases was positive for vimentin whereas 5 of the 6 cases were positive for broad-spectrum cytokeratins. None of the cases was positive for high molecular weight cytokeratin, cytokeratin-19, smooth muscle actin, desmin, calcitonin, chromogranin, or synaptophysin. The proliferative rate was less than 1% in all cases. Staining for TTF-1 and TTF-2 provided high specificity for identification of SCFT since these markers were not subject to the same diffusion artifact inherent in thyroglobulin-stained sections. The results of this study further support the hypothesis that SCFT result from metaplastic transformation of follicular cells.

Comparison of thyroid transcription factor-1 expression by 2 monoclonal antibodies in pulmonary and nonpulmonary primary tumors.

Thyroid transcription factor-1 (TTF-1) is a transcription factor that plays a role in the development and physiology of the thyroid and lungs. Expression of TTF-1 is used as a marker of lung and thyroid clinically. Commercially available clones of TTF-1 monoclonal antibodies, 8G7G3/1 and SPT24, have been reported to have different sensitivities for the detection of neoplasms of different origins. Although they are used extensively in daily practice, a comprehensive comparative study of these antibodies in a wide variety of neoplasms is lacking. We examined TTF-1 expression in primary tumors of the lung, prostrate, pancreas, stomach, salivary glands, breast, bladder, colon, and squamous cell carcinoma of the head and neck and compared the results obtained with both TTF-1 clones. The SPT24 clone detected more primary lung tumors of all histologic subtypes. Importantly, the SPT24 clone detected a significantly higher number of squamous cell carcinomas and carcinoid tumors of the lung. Among nonpulmonary primary tumors, a significant number of invasive urothelial carcinoma of the bladder (5.1%) was TTF-1 positive. In addition, a small proportion of prostate (1.2%), stomach (0.9%), salivary gland (1.8%), and colon (2.5%) carcinomas were positive with both clones. Of note, both clones stained the same nonpulmonary tumors with similar intensity and distribution. Carcinomas of the pancreas, breast, and squamous cell carcinomas of the head and neck were negative with both clones. In summary, the SPT24 clone detected a higher number of pulmonary non-small cell tumors of all histologic subtypes whereas both clones stained a similar proportion of nonpulmonary tumors.