A 29 years old female presented to us in the metabolic clinic of the University of Port Harcourt Teaching Hospital (UPTH) on account of a week history of easy fatigability, weakness, and lower extremity muscle cramps associated with numbness and tingling sensation in the peri-oral area, fingers and toes. Two weeks prior to the onset of her presenting symptoms, she had visited a local pharmaceutical shop on account of a distressing epigastric discomfort and was subsequently placed on daily oral omeprazole 20mg daily for a month by a pharmacist. She had been on the omeprazole medication for two weeks before her present symptoms manifested. Her past medical history was not suggestive of hypoparathyroidism nor pancreatitis. She was married with three children and has an uneventful family, social and obstetric histories. On examination, she was a healthy well-oriented young female with positive Trousseau’s, Chvostek’s and epigastric tenderness signs. Further Laboratory evaluation revealed she had low plasma magnesium, low plasma albumin-corrected calcium, and low serum parathyroid hormone levels, while other laboratory parameters were essentially normal. A diagnosis of omeprazole-induced electrolyte disorders (hypomagnesaemia and hypocalcaemia) associated with hypoparathyroidism was made following the review of her clinical examination and laboratory findings. She was subsequently managed with oral magnesium supplements following the withdrawal of the omeprazole medication (replaced with oral ranitidine), monitored weekly, and full recovery was achieved after three weeks.

New research in mice suggests that a pregnancy hormone contributes to brain and behavioral changes caused by childhood adversity

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New York ; London : W.W. Norton, 2008.

Rockville, Maryland : National Institute on Drug Abuse, 1985.

Pediatric thrombocytopenia has a wide differential diagnosis, and recently, genetic testing to identify its etiology has become more common. We present a case of a 16-year-old boy with a history of chronic moderate thrombocytopenia, who later developed constitutional symptoms and bilateral hand edema with cold exposure. Laboratory evaluation revealed evidence both of inflammation and elevated muscle enzymes. These abnormalities persisted over months. His thrombocytopenia was determined to be immune mediated. Imaging revealed lymphadenopathy and asplenia, and a muscle biopsy was consistent with tubular aggregate myopathy. Ophthalmology evaluation noted photosensitivity, pupillary miosis, and iris hypoplasia. Genetic testing demonstrated a pathogenic variant in STIM1 consistent with autosomal dominant Stormorken syndrome. Our case is novel because of the overlap of phenotypes ascribed to both gain-of-function and loss-of-function pathogenic variants in STIM1, thereby blurring the distinctions between these previously described syndromes. Pediatricians should consider checking muscle enzymes when patients present with thrombocytopenia and arthralgia, myalgia, and/or muscle weakness. Our case highlights the importance of both multidisciplinary care and genetic testing in cases of chronic unexplained thrombocytopenia. By understanding the underlying genetic mechanism to a patient’s thrombocytopenia, providers are better equipped to make more precise medical management recommendations.

Chronic sleep deprivation is a common, treatable condition among adolescents. Growing literature supports a myriad consequences that impact overall health, behavior, mood, and academic performance in this vulnerable age group during a time when there are rapid changes in physical development and emotional regulation. This article reviews the epidemiology and health effects of sleep deprivation in adolescents as well as common disorders leading to sleep loss and evidence to support treatment. Although a variety of important sleep disorders may disrupt quality of sleep in adolescents, such as obstructive sleep apnea, restless leg syndrome, and narcolepsy, this article will focus on common disorders that affect the quantity of sleep, such as poor sleep hygiene, circadian rhythm disorders, and insomnia.

In response to the growing impact of the current opioid public health crisis in the United States on adolescents and young adults, pediatricians have an expanding role in identifying opioid use early, preventing escalation of risky use, reducing opioid-related harms, and delivering effective therapies. Research and expert consensus suggest the use of brief interventions focused on reducing risks associated with ongoing opioid use and using motivational interviewing strategies to engage youth in treatment. Because fatal opioid overdose remains a major cause of opioid-related mortality among youth, delivering overdose education as part of any visit in which a youth endorses opioid use is one evidence-based strategy to decrease the burden of opioid-related mortality. For youth that are injecting opioids, safe injection practices and linkage to needle or syringe exchanges should be considered to reduce complications from injection drug use. It is crucial that youth be offered treatment at the time of diagnosis of an opioid use disorder (OUD), including medications, behavioral interventions, and/or referral to mutual support groups. The 2 medications commonly used for office-based OUD treatment in adolescents are extended-release naltrexone (opioid antagonist) and buprenorphine (partial opioid agonist), although there is a significant treatment gap in prescribing these medications to youth, especially adolescents <18 years of age. Addiction is a pediatric disease that pediatricians and adolescent medicine physicians are uniquely poised to manage, given their expertise in longitudinal, preventive, and family- and patient-centered care. Growing evidence supports the need for integration of OUD treatment into primary care.

Eating disorders are characterized by preoccupation with weight and shape, which is manifested by a refusal to maintain a normal weight. An exact determination of expected body weight (EBW) is critical for diagnosis and clinical management of these disorders.

The McLaren and Moore methods present with several limitations when calculating EBW for adolescents with eating disorders. A commonly agreed upon method for EBW calculation such as the BMI percentile method is recommended for clinical and research purposes. (Read the full article)

Mixed prevalence rates of co-occurring psychiatric and neurodevelopmental conditions have been reported in children diagnosed with an autism spectrum disorder (ASD). ASD diagnoses remain fairly stable within a continuum, but some do not meet criteria for an ASD diagnosis years after initial diagnosis.

Co-occurring neurodevelopmental and psychiatric conditions may explain, in part, why the diagnosis of an ASD may change with age. (Read the full article)

The number of individuals diagnosed with autism spectrum disorders (ASDs) continues to increase in the United States and other developed countries. Most prevalence estimates indicate that ASD is diagnosed less commonly in Hispanic individuals compared with non-Hispanic (NH) white populations.

Prevalence of ASD in Arizona’s population-based cohort is higher than reported previously. Prevalence in the Hispanic population and NH white population increased significantly over time, with a significant decrease in the gap between Hispanic and NH white prevalence. (Read the full article)

Diabetes during pregnancy has been associated with general development impairments in offspring; however, associations between autism and maternal diabetes have been inconsistent. Few studies have examined related conditions accompanied by underlying increased insulin resistance and their association with developmental outcomes.

This population-based study in young children provides evidence that maternal metabolic conditions are a risk factor for autism, developmental delay without autistic symptoms, and impairments in several domains of development, particularly expressive language, after adjusting for sociodemographic and other characteristics. (Read the full article)

Although several randomized trials have examined the efficacy of serotonin receptor inhibitors in the treatment of repetitive behaviors, there still remains clinical uncertainty as to whether these agents are effective in treating such behaviors in children and adults with autism spectrum disorders.

The goal of this meta-analysis was to examine randomized trials of serotonin receptor inhibitors for treating repetitive behaviors in autism spectrum disorders. Although a small but significant effect of these agents was observed, this effect is likely due to the selective publication of trial results. (Read the full article)

Physical punishment is associated with aggression, delinquency, and internalizing conditions in childhood, as well as a range of Axis I mental disorders in adulthood. More research is needed on the possible long-term relationship between physical punishment and mental health.

To our knowledge, this is the first nationally representative examination of physical punishment and a range of Axis I and II disorders, gender interactions, and proportion of mental disorders in the general population that may be attributable to physical punishment. (Read the full article)

Eating disorder not otherwise specified (EDNOS) is the most common eating disorder diagnosis. Binge eating disorder, 1 type of EDNOS, is associated with obesity among adults. Little is known about the health outcomes associated with other types of EDNOS.

This is the first study to evaluate the prospective association of full and subthreshold bulimia nervosa, binge eating disorder, purging disorder, and other EDNOSs with specific mental and physical health outcomes. (Read the full article)

The 2009 influenza A (H1N1) pandemic caused illness in all age groups, but children were disproportionately affected. Children with underlying neurologic disorders were at high risk of influenza-related complications, including death.

This study provides the first detailed description of underlying neurologic disorders among children who died of influenza A (H1N1)pdm09 virus infection. (Read the full article)

Sleep disordered breathing (SDB) and behavioral sleep problems (BSPs) affect cognitive, behavioral, and language development. No studies have examined associations between SDB and BSPs across early childhood, and later special education need (SEN), on a population basis.

A history of SDB through 5 years of age was associated with ~40% increased odds of SEN at 8 years, among >11 000 children. BSPs were associated with 7% increased odds of SEN, for each additional ~12 months of reported BSPs. (Read the full article)

Anecdotal accounts that suggest elopement behavior occurs in children with autism spectrum disorders (ASDs), that injuries and fatalities can result, and that associated family burden and stress are substantial. However, there has been little research characterizing the phenomenon or its frequency.

Nearly half of children with an ASD elope, and more than half of these "go missing." Elopement is associated with autism severity, and is often goal-directed. Addressing elopement behavior is an important aspect of intervention for many individuals with ASDs. (Read the full article)

At the time of their pediatric medical evaluation, patients with functional abdominal pain (FAP) have higher levels of emotional symptoms compared with youth without FAP. No controlled prospective study has evaluated psychiatric outcomes for FAP patients in adulthood.

This prospective study showed that pediatric FAP was associated with high risk of anxiety disorders in adolescence and young adulthood. Risk was highest if abdominal pain persisted, but was significantly higher than in controls even if pain resolved. (Read the full article)

Psychotropic use is common and increasing in children with mental disorders but little is known about the long-term patterns of psychotropic use and polypharmacy among commercially insured children with autism spectrum disorders.

Among 33 565 children with autism spectrum disorders, 64% used psychotropic medications and 35% had evidence of polypharmacy. Older children and those who had seizures, attention-deficit disorders, anxiety, bipolar disorder, or depression had increased risk of psychotropic use and polypharmacy. (Read the full article)

Previous studies have found links between prepregnancy BMI and/or pregnancy weight gain and autism spectrum disorders (ASD) risk. Several contributing factors to BMI and pregnancy weight gain (ie, prematurity, advanced maternal age, parental education, and parity) overlap with established ASD risk factors.

This study identifies an association between ASD risk and prenatal weight gain, but not prepregnancy BMI, and accounts for important confounding variables excluded in previous analyses. It provides the first within-mother comparison of these factors by including unaffected sibling controls. (Read the full article)

Individuals with autism spectrum disorders have a higher comorbidity burden than the general pediatric population, including higher rates of seizures, psychiatric illness, and gastrointestinal disorders.

Comorbidities do not occur evenly. Our clustering analysis reveals subgroups characterized by seizure, psychiatric disorders, and complex multisystem disorders including auditory and gastrointestinal disorders. Correlations between seizure, psychiatric disorders, and gastrointestinal disorders are validated on a sample from a second hospital. (Read the full article)

Previous analyses have documented increased health care costs for children with autism spectrum disorders but have not provided comprehensive estimates of the total economic burden.

There are substantial additional costs associated with caring for children with autism spectrum disorders, amounting to >$17 000 per child annually. Costs accrued outside of the health care system account for the majority of the financial burden. (Read the full article)

The pediatric mental health burden is substantial, with >4 million children meeting criteria for a mental health disorder. Mental health is a key priority for national pediatric inpatient quality measures, but little is known about admitted patients and their diagnoses.

Nationally, nearly 10% of hospitalizations in children >3 years are for primary mental health diagnoses. The most common and costly are depression, bipolar disorder, and psychosis. Fewer free-standing children’s hospitalizations (3%) were for mental health admissions, although diagnostic distributions were similar. (Read the full article)

Autism prevalence is reported to be highest among non-Hispanic white children, lower in Hispanic and African American/black children, and highly variable in Asian/Pacific Islanders. More comorbid intellectual disability and delays in expressive language have been observed among Hispanic and African American children.

Maternal nativity is a risk factor for childhood autism in US populations. We observed higher risk of severe autism phenotypes in children of foreign-born black, Central/South American, Filipino, and Vietnamese mothers and US-born African Americans and Hispanics compared with US-born whites. (Read the full article)

XY disorders of sex development have a diverse etiology and often present with atypical genitalia in the newborn period. Sex assignment in those cases in whom this is marked genital ambiguity is a rare, challenging situation that requires multidisciplinary input.

An international registry has shown temporal changes over the last 3 decades in the practice of sex assignment with a greater proportion of severely affected infants being raised as boys, raising the need for long-term monitoring of these children. (Read the full article)

Recent case reports have described acute life-threatening complications in adolescents who present to health services having lost large amounts of weight but who are not underweight. Little is known about the frequency of life-threatening complications in these adolescents.

Over 6 years, we found more than a fivefold increase in the incidence of hospitalized adolescents who, apart from not being underweight, have diagnostic features of anorexia nervosa. This group experienced a similar profile of acute complications of anorexia nervosa. (Read the full article)

Most studies of fetal alcohol syndrome and fetal alcohol spectrum disorders (FASD) prevalence in the general population of the United States have been carried out using passive methods (surveillance or clinic-based studies), which underestimate rates of FASD.

Using active case ascertainment methods among children in a representative middle class community, rates of fetal alcohol syndrome and total FASD are found to be substantially higher than most often cited estimates for the general US population. (Read the full article)

Cesarean delivery has previously been associated with increased risk of specific immune diseases in children. The mechanism remains unknown.

In 1 large population-based cohort, we demonstrate cesarean delivery as a shared risk factor for several immune-related diseases. Such common risk factor suggests early life commonality in the origins of these chronic immune disorders. (Read the full article)

Although there is evidence regarding comorbidity of physical and mental disorders from clinical samples of specific disorders and treatment registries, there is limited evidence from systematic samples of youth with comprehensive information on the full range of mental and physical disorders.

This report is the first study to investigate the specificity of associations between a broad range of mental and physical conditions by using a large, systematically obtained pediatric sample with enriched information from electronic medical records and direct interviews. (Read the full article)

Congenital cytomegalovirus infection is the leading infectious cause of neurologic disabilities and sensorineural hearing loss in children. Little is known concerning the frequency and impact of vestibular disorders induced by cytomegalovirus infection.

This study reports on the largest cohort of vestibular assessment of children congenitally infected with cytomegalovirus, demonstrating vestibular damages, and analyzes the correlations between vestibular dysfunction and hearing impairment or severity of infection. Cytomegalovirus infection affects postural development in children. (Read the full article)

Both short and long interpregnancy intervals are associated with increased risk of autism in second-born children. However, it is not known if the association is explained by unfavorable birth outcomes of the previous siblings.

Both short and long interpregnancy intervals increase risk of autism in second-born children independently of previous siblings being born premature, having low birth weight, or being born by cesarean delivery and independently of maternal antidepressant use 3 months before pregnancy. (Read the full article)

Title: Many Adults Delay Getting Help for Eating Disorders
Category: Health News
Created: 4/21/2020 12:00:00 AM
Last Editorial Review: 4/22/2020 12:00:00 AM

Title: Napping Habits Tied to Sleep Disorders
Category: Health News
Created: 5/2/2008 2:00:00 AM
Last Editorial Review: 5/2/2008 12:00:00 AM

BACKGROUND Pregnant patients from rural counties of Western North Carolina face additional barriers when accessing comprehensive perinatal substance use disorders care at Project CARA as compared to patients local to the program in Buncombe County. We hypothesized regional patients would be less engaged in care.

METHOD Using a retrospective cohort design, univariate analyses (², t-test; P < .05) compared patients' characteristics, engagement in care, and delivery outcomes. Engagement in care, the primary outcome, was operationalized as: attendance at expected, program-specific prenatal and postpartum visits, utilization of in-house counseling, community-based and/or inpatient substance use disorders treatment, and maternal urine drug screen at delivery negative for illicit substances.

RESULTS Regional patients (n = 324) were more likely than Buncombe County patients (n = 284) to have opioid [209 (64.5%) versus 162 (57.0%)] or amphetamine/methamphetamine use disorders (25 [7.7%] versus 13 [4.6%]), but less likely to have cannabis use (19 [5.9%] versus 38 [13.4%]; P = .009) and concurrent psychiatric disorders (214 [66.0%] versus 220 [77.5%]; P = .002). Engagement at postpartum visits was the significantly different outcome between patients (110/221 [49.8%] versus 146/226 [64.6%]; P = .002).

LIMITATIONS Outcomes were available for 66.8% of regional and 79.6% of Buncombe County patients of one program in one predominately white, non-Hispanic region of the state.

CONCLUSION Contrary to our hypothesis, regional and Buncombe County women engaged in prenatal care equally. However, a more formal transition into the postpartum period is needed, especially for regional women. A "hub-and-spokes" model that extends delivery of perinatal substance use disorders care into rural communities may be more effective for engagement retention.

Heterozygous germline mutations in mammalian target of rapamycin (MTOR) (OMIM 601231) are known to underlie Smith-Kingsmore syndrome (SKS; OMIM 616638), an infrequent entity with autosomal dominant inheritance, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (ORPHA 457485).¹ Among the clinical features of SKS, the most common features include intellectual disability, macrocephaly, epilepsy, and facial dysmorphism. The aim of this case is to raise awareness of a distinct phenotypical presentation of SKS manifesting with bilateral cataracts and no history of seizures.

Dr. Sethi raises an excellent point about the term functional neurologic disorder (FND) in his comment on the editorial.¹ It seems clear that reticence to use the term functional creates the ambiguity he mentions. Medically unexplained symptoms, categorized in the international classification of diseases as undifferentiated somatoform disorders, are a diagnosis that many providers are loathed to give. Whether that is because of concern about missing a diagnosis is not clear. Having evaluated and treated more than 400 of these individuals in the FND clinic at the University of Colorado, I can attest to the fact that patients arrive confused about their diagnosis. Multiple incorrect diagnoses, as Dr. Sethi points out, pack the medical histories of patients with FND, leading doctors and patients astray. I believe that the commentary by Perez et al.² gives us the best chance for a way forward, by teaching a new generation of residents and fellows how to approach patients in a nonjudgmental and open-minded fashion. It took 30 years to add Functional Neurologic Disorder to the Diagnostic and Statistical Manual, and it is still parenthetical to the term Conversion.³ Stripping the diagnosis of FND of its stigma and empowering care providers to rule in functional disorders is an actionable step which should be taken.

I read with interest the editorial by Strom¹ about functional neurologic disorders (FNDs). As a treating physician, I have struggled with the multiple diagnostic labels attached to these patients by physicians of different medical specialties during the course of their clinical disease presentation. A neurologist may assign a patient who presents with chronic fatigue the diagnostic labels of narcolepsy, idiopathic hypersomnia, or chronic Lyme disease. A rheumatologist may assign the label of collagen vascular disease, and a psychiatrist may diagnose depression. This diagnostic ambiguity is troublesome for patients and clinicians alike. I contend that even the term FND needs to be revisited. A patient should be broadly labeled as having a functional disorder and only after characterization sublabeled and referred to an appropriate specialty physician.

OBJECTIVES:

Children born very preterm (VPT) are at an increased risk of developing mental health (MH) disorders. Our aim for this study was to assess rates of MH disorders in children born VPT and term at 13 years of age and stability of MH disorders between ages 7 and 13 years by using a diagnostic measure.

As the technical ability for genetic diagnosis continues to improve, an increasing number of diagnoses are made in infancy or as early as the neonatal period. Many of these diagnoses are known to be associated with developmental delay and intellectual disability, features that would not be clinically detectable at the time of diagnosis. Others may be associated with cognitive impairment, but the incidence and severity are yet to be fully described. These neonates and infants with genetic diagnoses therefore represent an emerging group of patients who are at high risk for neurodevelopmental disabilities. Although there are well-established developmental supports for high-risk infants, particularly preterm infants, after discharge from the NICU, programs specifically for infants with genetic diagnoses are rare. And although previous research has demonstrated the positive effect of early developmental interventions on outcomes among preterm infants, the impact of such supports for infants with genetic disorders who may be born term, remains to be understood. We therefore review the literature regarding existing developmental assessment and intervention approaches for children with genetic disorders, evaluating these in the context of current developmental supports postdischarge for preterm infants. Further research into the role of developmental support programs for early assessment and intervention in high-risk neonates diagnosed with rare genetic disorders is needed.

After vascular injury and exposure of subendothelial matrix proteins to the intravascular space, mediators of hemostasis are triggered and allow for clot formation and restoration of vascular integrity. Platelets are the mediators of primary hemostasis, creating a platelet plug and allowing for initial cessation of bleeding. Platelet disorders, qualitative and quantitative, may result in bleeding signs and symptoms, particularly mucocutaneous bleeding such as epistaxis, bruising, petechiae, and heavy menstrual bleeding. Increasing evidence suggests that platelets have functional capabilities beyond hemostasis, but this review focuses solely on platelet hemostatic properties. Herein, normal platelet function as well as the effects of abnormal function and thrombocytopenia are reviewed.

Metabolic disorders are highly prevalent in kidney transplant candidates and recipients and can adversely affect post-transplant graft outcomes. Management of diabetes, hyperparathyroidism, and obesity presents distinct opportunities to optimize patients both before and after transplant as well as the ability to track objective data over time to assess a patient’s ability to partner effectively with the health care team and adhere to complex treatment regimens. Optimization of these particular disorders can most dramatically decrease the risk of surgical and cardiovascular complications post-transplant. Approximately 60% of nondiabetic patients experience hyperglycemia in the immediate post-transplant phase. Multiple risk factors have been identified related to development of new onset diabetes after transplant, and it is estimated that upward of 7%–30% of patients will develop new onset diabetes within the first year post-transplant. There are a number of medications studied in the kidney transplant population for diabetes management, and recent data and the risks and benefits of each regimen should be optimized. Secondary hyperparathyroidism occurs in most patients with CKD and can persist after kidney transplant in up to 66% of patients, despite an initial decrease in parathyroid hormone levels. Parathyroidectomy and medical management are the options for treatment of secondary hyperparathyroidism, but there is no randomized, controlled trial providing clear recommendations for optimal management, and patient-specific factors should be considered. Obesity is the most common metabolic disorder affecting the transplant population in both the pre- and post-transplant phases of care. Not only does obesity have associations and interactions with comorbid illnesses, such as diabetes, dyslipidemia, and cardiovascular disease, all of which increase morbidity and mortality post-transplant, but it also is intimately inter-related with access to transplantation for patients with kidney failure. We review these metabolic disorders and their management, including data in patients with kidney transplants.

Although they are usually not considered to be diabetes complications, musculoskeletal disorders (MSKDs) are common in individuals with type 1 or type 2 diabetes and can strongly interfere with daily diabetes care, especially in people using diabetes technologies. The authors of this retrospective study in a population of 140 patients with type 1 diabetes report the distribution of subtypes of MSKDs and speculate about the mechanisms involved. The authors emphasize the need for multidisciplinary care involving not only the diabetes care team but also orthopedic surgeons. This report should lead to large, prospective studies to increase knowledge about these under-studied complications.

Although the clinical symptoms of SARS, H1N1, MERS, EVALI, and COVID-19 may be nonspecific, some characteristic imaging findings are emerging, says the American Journal of Roentgenology (AJR). Careful evaluation of the distribution, lung zone preference, and symmetry of the abnormalities with an eye for a few unique differentiating imaging features can allow radiologists to offer a narrower differential diagnosis in pediatric patients, leading to optimal patient care.

As many as 20% to 25% of healthcare workers in hard-hit areas, experts say, are likely to develop disorders such as anxiety, depression or post-traumatic stress.