Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome.

Microdeletion in the 16p11.2 loci lead to a distinct neurodevelopmental disorder with intellectual disability and autism spectrum disorder in addition to dysmorphia, macrocephaly, and increased body mass index. One of the deleted genes in this region is which codes for proline-rich transmembrane protein 2.

Home direct-to-consumer telehealth solutions for children with mental health disorders and the impact of Covid-19.

Delivery of mental health treatment in the home can close gaps in care. Telehealth also provides access to healthcare that has been disrupted due to the COVID-19 pandemic. In 2016, a home direct-to-consumer telehealth program was initiated.

Children's Hospital Ambulatory Response to the 2019 Novel Coronavirus Disease (COVID-19) Pandemic.

The 2019 novel coronavirus disease (COVID-19) pandemic produced an abrupt and near shutdown of nonemergent patient care. Children's National Hospital (CNH) mounted a multidisciplinary, coordinated ambulatory response that included supply chain management, human resources, risk management, infection control, and information technology. To ensure patient access, CNH expanded telemedicine and instituted operational innovations for outpatient procedures.

Hemiataxia: A Novel Presentation of Anti-NMDA Receptor Antibody Mediated Encephalitis in an Adolescent.

Anti-NMDA receptor antibody associated encephalitis as a cause of new-onset neuropsychiatric manifestations in children and adults can represent a significant diagnostic challenge for clinicians. Clinical signs often include encephalopathy, new-onset psychosis, and movement phenomenon. Although orofacial dyskinesias were initially identified as a characteristic movement phenomenon in this type of encephalitis, an expanded range of abnormalities has recently been reported, including isolated ataxia.

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful tool for the identification of pathogenic variants leading to Mendelian disorders, among which NDD represent a significant percentage. Performing WES with a trio-approach has proven to be extremely effective in identifying de novo pathogenic variants as a common cause of NDD.

Obesity Prevention and Screening.

Obesity is widespread, associated with several physical and psychosocial comorbidities, and is difficult to treat. Prevention of obesity across the lifespan is critical to improving the health of individuals and society. Screening and prevention efforts in primary care are an important step in addressing the obesity epidemic.

Prolonged Activity Restriction After Concussion: Are We Worsening Outcomes?

The current treatment of concussion or mild traumatic brain injury (mTBI) is primarily based on expert consensus. Most clinical practice guidelines advise cognitive and physical rest after injury including withdrawal from normal life activities such as school attendance, sports participation, and technology use until symptoms resolve. Some individuals who sustain an mTBI experience persistent physical, cognitive, and mental health problems.

Subtotal splenic embolization is a safe and effective treatment for isolated splenic vascular tumors associated with consumptive coagulopathy.

Consumptive coagulopathy is a known complication of large vascular tumors. We describe 2 episodes of consumptive coagulopathy in young children, which were secondary to isolated splenic vascular tumors. One child was successfully treated by subtotal embolization of the spleen, whereas the second child required splenectomy after an initial embolization improved--but did not fully control--his consumptive coagulopathy.

Intradermal botulinum toxin type A injection effectively reduces residual limb hyperhidrosis in amputees: a case series.

Objective: To study the effectiveness of botulinum toxin type A (BTX-A) therapy for residual limb hyperhidrosis, prosthesis fit and function, and residual and phantom limb pain in patients with limb amputation.

Design: Consecutive case series.

Setting: Outpatient physical medicine and rehabilitation clinic.

Rotavirus-induced seizures in childhood.

Rotavirus infection is a frequent cause of gastroenteritis in children and accounts for significant morbidity and mortality, especially in the developing world. Less well recognized is the association of rotavirus-induced central nervous system dysfunction, which has been associated with seizure, encephalopathy, and death. Symptoms may vary widely, however, and children can experience short afebrile convulsions as the only manifestation of rotavirus encephalopathy.

Successful treatment of recalcitrant restless legs syndrome with botulinum toxin type-A.

Study Objective: We report the effective use of injected BTX-A to treat refractory restless legs syndrome (RLS).

Methods: This is an observational case series of 3 patients meeting the essential diagnostic criteria for RLS whose symptoms were refractory to or who refused oral medication. Areas of maximal discomfort were injected as described below.

Orofacial automatisms induced by acute withdrawal from high-dose midazolam mimicking nonconvulsive status epilepticus in a child.

Nonconvulsive Status Epilepticus (NCSE) is not uncommon in children, and can be challenging to diagnose and treat. Etiologies vary widely and include infection, trauma and acute withdrawal from medications such as anticonvulsants. We report a child who experienced orofacial dyskinesias concerning for NCSE after withdrawal from high dose benzodiazepines andopiates.

Treatment of refractory, chronic low back pain with botulinum neurotoxin A: an open-label, pilot study.

Objective: To study the short- and long-term effects of botulinum neurotoxin A (BoNT-A, Botox, Allergan Inc.) on refractory chronic low back pain.

Design: The effect of botulinum neurotoxin A on chronic low back pain was prospectively studied in 75 patients with repeated treatments over a period of 14 months.

Treatment of chronic low back pain with successive injections of botulinum toxin a over 6 months: a prospective trial of 60 patients.

Objectives: The aim of this study was to evaluate the effects of two successive neurotoxin treatments for chronic low back pain using multiple pain rating scales in an open-label, prospective study.

Methods: Adult patients with chronic low back pain received multiple paraspinal muscle injections with a maximum dosing of 500 units of botulinum A toxin per session. Those with a beneficial clinical response received a second treatment at 4 months.

Paroxysmal tonic upgaze and partial tetrasomy of chromosome 15: a novel genetic association.

Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who presented to his pediatrician with associated hypotonia and gross motor delay.

Visual disturbance associated with postoperative cerebellar mutism.

Cerebellar mutism is an uncommon complication of posterior fossa surgery. Manifestations include disturbances of articulation, prosody, and pitch, and, if severe, complete mutism. Symptoms are independent of recognizable cortical or brainstem injury, and recovery is variable, with permanent deficits frequently observed.

Botulinum toxin a improved burning pain and allodynia in two patients with spinal cord pathology.

Objective: To report the effect of botulinum toxin A in two patients with burning pain and allodynia of spinal cord origin.

Design, Setting, Patients: Two patients with spinal cord lesions at the cervical level (tumor and stroke) experienced exquisite skin sensitivity and spontaneous burning pain in dermatomes corresponding to the cord lesions. Botulinum toxin A (Botox) was injected subcutaneously at multiple points (16 to 20 sites, 5 units/site) in the area of burning pain and allodynia.

Basal ganglia injury as a complication of the ketogenic diet.

Movement disorders or basal ganglia injury have not been reported as complications of the ketogenic diet, an alternative treatment for intractable epilepsy. We report on a novel complication of the ketogenic diet manifesting as a severe extrapyramidal movement disorder and bilateral putaminal lesions. A single case is described.

Ectodermal dysplasia and brain cystic changes: confirmation of a novel neurocutaneous syndrome.

Ectodermal dysplasia is a rare congenital disorder characterized by dry, brittle hair, dental malformations, and skin abnormalities. It is thought to be the result of embryonic ectodermal dysgenesis, affecting tissues and structures that are widely separated but with common developmental origins. Recently, this disorder has been associated with a unique neuroimaging appearance, consisting of widely dilated perivascular spaces.