Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.

Patient headache questionnaires can improve headache diagnosis and treatment in children.

OBJECTIVE: To examine trends in diagnosis of headache and migraine in a large pediatric neurology cohort, and test whether an electronic health record (EHR)-integrated headache questionnaire can increase specificity of diagnosis and likelihood of prescribing migraine treatment. BACKGROUND: Under-diagnosis of migraine contributes to the burden of disease. As we founded our Pediatric Headache Program in 2013, we recognized that the proportion of patients with headache who were given a diagnosis of migraine was much lower than expected. METHODS: We developed a patient headache questionnaire, initially on paper (2013-2014), then in an electronic database (2014-2016), and finally integrated into our electronic health record (pilot: 2016, full: May 2017). We compared diagnoses and prescribed treatments for new patients who were given a headache diagnosis, looking at trends in the proportion of patients given specific diagnoses (migraine, etc.) versus the non-specific diagnosis, "headache." Next, we conducted a prospective cohort study to test for association between provider use of the form and the presence of a specific diagnosis, then for an association between specific diagnosis and prescription of migraine treatment. RESULTS: Between July 2011 and December 2022 the proportion of new headache patients who were given a diagnosis of migraine increased 9.7% and non-specific headache diagnoses decreased 21.0%. In the EHR cohort (June 2017-December 2022, n = 15,122), use of the provider form increased the rate of specific diagnosis to 87.2% (1839/2109) compared to 75.5% (5708/7560) without a patient questionnaire, nearly doubling the odds of making a specific diagnosis (odds ratio [OR] 1.90, 95% confidence interval [CI]: 1.65-2.19). Compared to those given only a non-specific headache diagnosis who were prescribed a migraine therapy 53.7% (1766/3286) of the time, 75.3% (8914/11836) of those given a specific diagnosis received a migraine therapy, more than doubling the odds of prescription (OR 2.39, 95% CI: 2.20-2.60). CONCLUSIONS: Interventions to improve specificity of diagnosis were effective and led to increased rates of prescription of migraine treatments. These results have been sustained over several years. This headache questionnaire was adapted into the Foundation system of EpicCare, so it is broadly available as a clinical and research tool for institutions that use this EHR software.

Headache in Individuals with Neurodevelopmental Disorders.

PURPOSE OF REVIEW: Migraine is a common condition affecting an estimated billion people across the world. The incidence in individuals with neurodevelopmental disorders or intellectual disabilities like those seen in severe autism spectrum disorder (ASD) is unknown. This is likely due to the limited capacity to communicate the specifics of pain. The expression of pain with maladaptive behaviors, such as self-injurious behavior (SIB), has been described and can alert the clinician to the presence of untreated pain. This review article serves to educate the reader about clinical and treatment considerations when managing headaches in individuals with severe or non-verbal neurodevelopmental disorders given their communication challenges. It will include some clinical experiences and the gaps in our current knowledge. RECENT FINDINGS: A comprehensive literature review was conducted using scientific databases, including PubMed, Medline, and Google Scholar. Only 1 article addressed the consideration for headaches in this population. The search was conducted using a combination of the following keywords: headache, intellectual disabilities, autism, pain, and behavior. Headache pain is likely underestimated and represents a disservice to this population of people. The consideration for headache pain should be explored when maladaptive behaviors are otherwise unexplainable. Further studies are needed in the area.

The intersection of COVID-19, school, and headaches: Problems and solutions.

OBJECTIVE: To equip clinicians with recommendations specific to concerns related to the novel coronavirus disease 2019 (COVID-19), which impact the physical, emotional, and social health of youth with headache disorders. BACKGROUND: COVID-19 has affected societies on a global scale including children and youth with chronic headache disorders. Many concerns are predicted to arise in the 2020-2021 school year, whether classes are conducted in-person or virtually. METHODS: Clinical impressions were combined with a review of the literature, although limited due to the recent nature of this issue. RESULTS: We describe recommendations to support caregivers and youth as they face changes expected with the return to school in the fall of 2020. CONCLUSION: Although there are significant concerns for caregivers and youth with migraine given the context of changes related to the pandemic, there are many recommendations that can help minimize exacerbations of the physical, emotional, and social health of youth with chronic migraine.

Improving the Patient Experience With Migraine Camp, a One-Day Group Intervention for Adolescents With Chronic Headache and Their Parents.

Though chronic migraine is actually common in adolescents, living with constant headache can be isolating for both patients and their families. As an outgrowth of clinical care, we developed the Miles for Migraine Youth Camp, a recurring 1-day event for adolescents with chronic headache and their parents. Migraine Camp was developed to provide expanded headache education, teach coping strategies for living with chronic pain, and encourage development of a supportive community for adolescents living with chronic headache disorders and their families. The creation and curriculum of the Camps at the University of California San Francisco and Children's Hospital of Philadelphia are described in this manuscript, along with patient and caregiver feedback. Overall, feedback was positive. Teens reported feeling less isolated and more prepared to cope with headaches using new strategies. Both patients and caregivers consistently described benefit from connecting with others who experience similar challenges. The Migraine Camp teams at both institutions found it feasible to conduct the Camps 1-2 times per year using existing resources, but noted that to scale it to a more regular event additional administrative and/or volunteer support would be needed. In summary, the experience has been positive for patients, caregivers, and staff, and we hope that this manuscript can serve as a "how to" model for similar events at other institutions.

Advances in the Treatment of Tourette's Disorder.

PURPOSE OF REVIEW: This article was written in order to bring the reader up to date with developments that have occurred in the treatment of Tourette disorder (TD) over the last 5 years. RECENT FINDINGS: Despite the fact that TD has been recognized for over a century, the understanding of the underlying mechanisms remains poor. There has been limited development in the last 5 years for new therapeutic options. Aripipazole is the only newly approved pharmaceutical therapy for TD in the last 5 years, although several medications are under active study. For the most severely affected individuals, there is increasing experience with surgical interventions. One of the most promising areas of research is the work of genetic consortiums currently looking into identifying the underlying pathogenetic basis which in turn will hopefully lead to the development of safer and more effective therapies.

Neurologic challenges in 22q11.2 deletion syndrome.

Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders. We present an update of brain imaging findings from the CHOP 22q and You Center, a review of the current literature, and our current management practices for neurological issues.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. Most individuals are Caucasian and older than 8 years. The mean age at diagnosis was 3.9 years. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale intelligence quotient was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most individuals, but dermatoglyphic patterns of our cohort are similar to normal controls. This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.

The Clinical Utility of Finding Unexpected Subclinical Spikes Detected by High-Density EEG During Neurodiagnostic Investigations.

This study aimed to analyze the frequency of unexpected subclinical spikes (USCS) in pediatric patients who underwent high-density electroencephalogram (HD-EEG). Of the 4481 successful HD-EEG studies, 18.5% (829) were abnormal, and 49.7% of these abnormal studies showed SCS, of which 64.1% were USCS. USCS were found to be correlated with attention/concentration deficits and executive dysfunction, often accompanied by the dual psychiatric diagnosis of ADHD. MRI revealed abnormal findings in 32.6% of the subjects with USCS, such as abnormal signal or signal hyperintensity in brain parenchyma, temporal or arachnoid cysts, and vascular malformations. Moreover, the USCS group who received neuropsychiatric testing scored lower than the population mean on Full-Scale Intelligence Quotient, Working Memory Index, and Processing Speed Index. This study highlights the potential of USCS as biomarkers that can lead to changes in clinical management and outcomes, provide valuable information about pathophysiological mechanisms, and suggest potential treatment pathways.

Understanding Diversity, Equity, and Inclusion Roles in Academic Neurology Departments.

Academic neurology departments across the country have been rapidly adding diversity, equity, and inclusion (DEI) programs over the past 5-10 years. These programs frequently come with leadership roles that carry a variety of names and responsibilities, such as vice chair of DEI or diversity officer. Furthermore, there are roles for members of the department to be involved with DEI work without being designated the departmental DEI leader. This article provides a framework for understanding the different responsibilities that are typically associated with each of these roles, along with reasonable expectations to associate with the respective job titles. Our goal is to prevent departments from asking too much or expecting too little based on the job title and support provided to the people in these positions. Likewise, we hope to empower DEI leaders who are currently asked to perform duties beyond their scope to obtain the title and support they have earned. For each departmental DEI role, we review prerequisites to success and potential impediments.

A rare pediatric case of cluster headaches after cardiac catheterization in a patient with an isolated innominate artery.

While cluster headaches are classified and considered a primary headache disorder, secondary causes of cluster headaches have been reported and may provide insight into cluster headaches' potential pathophysiology. The mechanisms underlying this headache phenotype are poorly understood, and several theories have been proposed that range from the activation within the posterior hypothalamus to autonomic tone dysfunction. We provide a review of reported cases in the literature describing secondary causes after cardiac procedures. We will present a novel pediatric case report of a 16-year-old boy with an isolated innominate artery who presented with acute new-onset headaches 8 h following cardiac catheterization of the aortic arch with arteriography and left pulmonary artery stent placement. The headaches were characterized by attacks of excruciating pain behind the left eye and jaw associated with ipsilateral photophobia, conjunctival injection, rhinorrhea, with severe agitation and restlessness. These met the International Classification of Headache Disorders-3 criteria for episodic cluster headaches. The headaches failed to respond to non-steroidal anti-inflammatory medications, dopamine antagonists, and steroids. He showed an immediate response to treatment with oxygen. This unique case of cluster headaches following cardiac catheterization in a pediatric patient with an isolated innominate artery may provide new insight into cluster headaches' pathogenesis. We hypothesize that the cardiac catheterization induced cardiac autonomic changes that contributed to the development of his cluster headaches. The role of aortic arch anomalies and procedures in potential disruption of the autonomic tone and the causation of cluster headaches is an area requiring further study.

Neurologic Care in Concussion and Post-Concussive Encephalopathy.

Concussion has become a more recent "medical fad" with a lot of media coverage and hence an increasing incidence. According to the Center for Disease Control (CDC) and Prevention there are estimates of as many as 3.8 million sport-related traumatic brain injuries occurring annually (Centers for Disease Control and Prevention, 2007). Given these numbers, concussion care will require that both primary and specialist physicians feel comfortable in its management. This article will discuss the pathophysiology, epidemiology, clinical evaluation, therapies and prognosis in patients with concussion. The complex and chronic symptoms after a concussion and their management will be highlighted. Appropriate concussion care is essential for improving both the long and short term outcomes in adolescent athletes. There is an important role for the neurologist in improving the outcome in these athletes.

Psychopharmacology of tic disorders in children and adolescents.

Tics in children and adolescents are a common occurrence; however, a small proportion of these disorders require pharmacologic interventions. Several limitations exist with the use of pharmacologic interventions, and hence, a more ideal multidisciplinary approach is recommenced, with emphasis on nonpharmacologic management for improved functioning, adaptation, and comorbidities. Mutual and realistic goals ensure a trustful and successful relationship between the clinician and patient. An individualized plan is recommended with the goal of limiting side effects and managing comorbid conditions as a priority before addressing the tics specifically. This article reviews medications used to treat tic disorders in children and adolescents.

Seizures are common in the acute setting of childhood stroke: a population-based study.

In our large population-based cohort, 3.1% of adults had seizures within the first 24 h of acute stroke. The objective of our study was to determine a similar incidence in children and compare by stroke subtype. Stroke cases in children between July 1993 to June 1994 and January 1999 to December 1999 were retrospectively identified and abstracted. We identified 31 strokes during the two study periods, including 17 ischemic strokes, 12 intracerebral hemorrhages, and 2 subarachnoid hemorrhages. Seizures occurred within 24 h of the stroke in 58% (18/31) of children. No significant differences were found in the rate of seizure by stroke subtype. The relative risk (95% confidence interval) for seizure in the acute stroke setting in children versus adults is 18 (13, 26). As compared with adults, seizures within the acute setting of childhood stroke are common with an occurrence rate in our population of 58%.