Seminars in Pediatric Neurology

Perinatal palliative care (PnPC) focuses on enhancing family and newborn quality-of-life in the setting of a life-limiting fetal condition while simultaneously ensuring medical care delivery that is soundly in line with the family's goals and values. The inclusion of PnPC in the multidisciplinary care of a family facing severe fetal neurologic diagnoses allows for skilled exploration of the values and experience that ultimately drive creation of goals of care. The parental experience of receiving a life-limiting fetal diagnosis pushes parents into an emotional journey, which typically follows a recognizable progression of stages...

Fetal and neonatal neurology is increasingly recognized as a subspecialty within child neurology and fellowship training programs are emerging. Most child neurologists have not received formal training in the interpretation of fetal data and the practice of fetal neurology consultation. However, they can be valuable members of the fetal care team and bring important perspective to the diagnosis of fetal neurologic conditions. With a systematic approach and a planned format for counseling, child neurologists without formal training in fetal consultations can apply their postnatal neurology expertise to the prenatal neurology patient...

In this article we review the last 40 years of progress in fetal neurosurgery with special attention to current controversies and upcoming challenges in the field. We surveyed the published literature describing prenatal interventions for spinal malformations, cerebral malformations, and hydrocephalus. Even the most mature treatment paradigm, intrauterine repair of myelomeningocele, stands to benefit from advances in imaging and therapeutic modalities to improve patient selection, refine surgical techniques, validate novel biologic therapies, and streamline postoperative patient care...

Gene-environment (G x E) interactions significantly influence neurologic outcomes. The maternal-placental-fetal (MPF) triad, neonate, or child less than 2 years may first exhibit significant brain disorders. Neuroplasticity during the first 1000 days will more likely result in life-long effects given critical periods of development. Developmental origins and life-course principles help recognize changing neurologic phenotypes across ages. Dual diagnostic approaches are discussed using representative case scenarios to highlight time-dependent G x E interactions that contribute to neurologic sequelae...

Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures. Advancements in our understanding of inborn errors of metabolism are leading to an increasing number of therapeutic options. Many of these treatments can improve long-term neurodevelopment and seizure control. However, the treatments are frequently condition-specific. A high index of suspicion is required for prompt identification and treatment. When suspected, simultaneous metabolic and molecular testing are recommended along with concurrent treatment...

Neonatal hydrocephalus represents an important pathological condition with significant impact on medical care and neurocognitive development. This condition requires early recognition, appropriate medical and surgical management, and long-term surveillance by clinicians and pediatric neurosurgeons. Common etiologies of neonatal and infant hydrocephalus include intraventricular hemorrhage related to prematurity with subsequent post-hemorrhagic hydrocephalus, myelomeningocele, and obstructive hydrocephalus due to aqueductal stenosis...

No abstract text is available yet for this article.

The severe acute respiratory syndrome coronavirus 2 pandemic has markedly, and likely permanently, changed health care. This includes changing the obstetric and perinatal care of mothers and infants, and by extension, the care of their families. Infection during pregnancy is associated with an increased risk for severe coronavirus disease 2019 illness and related complications that can significantly impact maternal health and the health of the neonate. Viral transmission from mother to fetus is possible, but rare during pregnancy, and current health care policies focusing on maternal masking, and hand washing allows infected mothers to safely care for neonates (including nursing or feeding with expressed breast milk)...

Congenital brain malformations are abnormalities present at birth that can result from developmental disruptions at various embryonic or fetal stages. The clinical presentation is nonspecific and can include developmental delay, hypotonia, and/or epilepsy. An informed combination of imaging and genetic testing enables early and accurate diagnosis and management planning. In this article, we provide a streamlined approach to radiologic phenotyping and genetic evaluation of brain malformations. We will review the clinical workflow for brain imaging and genetic testing with up-to-date ontologies and literature references...

Despite advances in medical care and improved survival of extremely preterm infants, rates of neurodevelopmental impairment remain high. Outcomes are significantly improved with early intervention, but infants must be appropriately identified to facilitate services. Neuroimaging provides important information regarding neurodevelopmental outcomes but prognosticating and communicating risk remains challenging. Standardized neonatal neurodevelopmental assessments provide supplemental information to aid in the identification of high-risk infants and counseling for their families...

Functional Neurological Disorders are a common and debilitating group of diseases that have been the subject of stigma and confusion across medical history. It is well-documented that prognosis and even possible resolution of symptoms are linked to successful delivery of the diagnosis by the clinician, and correct understanding of diagnosis by the patient. In the following article, we delineate the nature of these disorders and provide an overview to assist providers successfully navigate the communication of these diagnoses to patients and families...

Functional neurological disorder (FND) is a condition at the intersection of neurology and psychiatry, with some patients experiencing sensory hypersensitivities and other sensory processing difficulties. It has been postulated that poor integration and modulation of sensory information with cognitive, affective and behavioral processes may play a role in the pathophysiology of FND. In this article, we first succinctly review the role for occupational therapy (OT) in the multidisciplinary therapeutic approach to managing patients with FND...

Functional neurological disorder is neurological dysfunction not primarily explained by pathophysiologic or structural abnormalities and can present in children and adolescents with limb weakness, gait abnormality, non-epileptic seizures or sensory changes. In this review article we focus primarily on the diagnosis of functional limb weakness and functional gait disorders, and how to differentiate functional neurological disorders from structural or pathologic neurological presentations of weakness or gait disturbance...

Functional hearing disorder (FHD) is one of the conditions that fall under the umbrella of Functional Neurological Disorders. FHD is characterized by a decrease in hearing sensitivity without correlation in standard audiological testing. In the general pediatric population, the prevalence of FHD is estimated at less than 2%. The prevalence is about 7% in children 6-17 years of age. Some authors, however, consider FHD the most common etiology of sudden onset bilateral hearing loss in children. The mean age at diagnosis of FHD is 11...

Functional Neurological Symptom Disorder (FNSD), or experiencing neurological symptoms incompatible with either a neurological condition or a medical condition, is a common condition presenting in children and adolescents. It is associated with impairment in quality of life for patients and their families and represents a significant burden to the healthcare system. There is currently limited research available regarding effective treatment of pediatric FNSD. Currently, only one RCT exists studying effective treatment of FNSD in children and adolescents, and it is limited to one sub-type of FNSD and only examined cognitive behavioral therapy compared to supportive therapy...

Functional movement disorders (FMD) are complex neurobehavioral disorders that can be a significant source of disability for both children and their caregivers. While FMD in the adult population is better characterized, the aim of this paper is to review the pertinent clinical and historical features, diagnostic criteria, and multi-disciplinary management of FMD in the pediatric population. We highlight recent trends in pediatric FMD, including the increase in functional tic-like behaviors that has been observed during the COVID-19 pandemic...

Psychogenic nonepileptic seizures (PNES) are a common condition seen in children and adolescents. The diagnosis is clinical, based on a description of events, and can be supported using video electroencephalography recording. Children and adolescents with PNES often have comorbid psychiatric conditions and psychosocial stressors, although this is not a requisite for diagnosis. The pathophysiology is not fully understood but may be related to emotional processing and underlying aberrant functional connectivity...

No abstract text is available yet for this article.

The modern diagnosis of functional neurological disorders (FND) describes a diverse set of neurological symptoms without identifiable pathology. The history of FND and its prescientific predecessor, hysteria, is complex and deeply rooted in sexism. Key moments in this history have contributed to the advancement of understanding in functional disorders that neurologists should be aware of. Although pediatric FND has a much less extensive historical literature, there are many parallels between it and the initial interest in hysteria by Charcot and other early modern neurologists...

Children and adolescents with functional neurological (conversion) disorder (FND) present with symptoms of impaired motor and sensory function. FND involves complex interactions between the brain, mind, body, and lived experience of the child. The gold standard for treatment is therefore a holistic, biopsychosocial approach with multimodal interventions delivered by a multidisciplinary team. In this narrative review we examine the role of physiotherapy in managing FND in children. We searched Embase, Medline, PsycINFO, and PubMed (back to 2000) for relevant physiotherapy articles and also manually searched their reference lists...