Neurology, movement, development, child neurology, pediatric neurology

The most common cause leading to supracondylar humerus fractures in children is falling onto an outstretched arm. A correlation between fall height and fracture severity may be assumed but has not yet been described. The aim of this study was to show that fracture severity increases with fall height. Furthermore, the correlation between fracture severity and outcome was examined. A total of 971 children with supracondylar humerus fractures between January 2000 and December 2019 were included in this study. The correlations between fall height and fracture severity and between fracture severity and outcome were assessed...

BACKGROUND: Anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis is a rare type of autoimmune encephalitis. A characteristic faciobrachial dystonic seizure (FBDS) is also frequently associated with this disease. Although primarily reported in the adult population, reports of its occurrence in the pediatric population are rare. Here, we describe a case of a 6-year-old girl diagnosed with anti-LGI1 encephalitis that presented with cognitive decline and FBDS. CASE PRESENTATION: The girl was referred to a pediatric neurology department for uncontrolled seizures and dyskinesia...

BACKGROUND: ST3GAL5 encodes GM3 synthase (ST3 beta-galactoside alpha-2,3-sialyltransferase 5; ST3GAL5), which synthesizes GM3 by transferring sialic acid to lactosylceramide. GM3, a sialic acid-containing glycosphingolipid known as ganglioside, is a precursor to the biosynthesis of various more complex gangliosides that are active in the brain. Biallelic variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD), a rare congenital disorder of glycosylation. GM3SD was first identified in the Amish population in 2004...

PURPOSE: To characterize a large, international cohort of children with nystagmus. METHODS: Data were collected from a single-center, prospectively developed database on patients with nystagmus. Outcome variables for this study included: (1) demographic characteristics, (2) nystagmus type, (3) clinical characteristics, (4) associated ophthalmic conditions, (5) associated non-ophthalmic conditions, (6) special testing findings, and (7) treatments. RESULTS: Six hundred patients from 38 states and 30 countries were included...

BACKGROUND: Objective measures specifically assessing selective voluntary motor control are scarce. Therefore, we have developed an interval-scaled assessment based on accelerometers. OBJECTIVE: This study provided a preliminary evaluation of the validity and reliability of this novel gamelike assessment measuring lower limb selective voluntary motor control in children with cerebral palsy (CP). METHODS: Children with CP and their neurologically intact peers were recruited for this psychometric evaluation of the assessgame...

Childhood ataxia may be due to multifactorial causes of impairment in the coordination of movement and balance. Acutely presenting ataxia in children may be due to infectious, inflammatory, toxic, ischemic, or traumatic etiology. Intermittent or episodic ataxia in children may be manifestations of migraine, benign positional vertigo, or intermittent metabolic disorders. Nonprogressive childhood ataxia suggests a congenital brain malformation or early prenatal or perinatal brain injury, and progressive childhood ataxia indicates inherited causes or acquired posterior fossa lesions that result in gradual cerebellar dysfunction...

Gillian is a 7-year-old nonverbal, internationally adopted girl with significant visual impairment (sees shadows and objects with high contrast), moderate-severe hearing loss, autism spectrum disorder, profound intellectual disability, and a seizure disorder. She resided in an orphanage until age 4 years when she was adopted by her mother. She is referred to the multidisciplinary team in developmental-behavioral pediatrics by her gastroenterologist, who is managing her constipation, for evaluation and management of self-injurious behavior that occurs before bowel movements...

Cognitive multisensory rehabilitation (CMR) -a therapeutic approach to help recover movement using neurocognitive exercises- activates patient's perceptive and cognitive processes, key for motor learning. The aim of this systematic review was to assess the effectiveness of CMR on motor function and quality of life and compare the findings with other rehabilitation approaches or no-intervention in neurological and trauma adult and pediatric patients. We carried out a systematic review of randomized controlled clinical trials, pilot studies, and case series in PubMed, PEDro, Cochrane Library, and the CINHAL Complete database published between 2012 and 2021...

Patients with mucopolysaccharidosis type IVA (MPS IVA) have many risk factors for myelopathy and paresis. These are spinal cord compression, bone stenosis, and soft tissue thickening with ligament laxity, deformity, odontoid hypoplasia, and atlantoaxial instability. Although most patients with MPS IVA appear generally healthy at birth, patients often show skeletal deformities within a few years. Surgical indications are difficult to determine. Historically, many physicians have used prophylactic decompression and fusion in young, asymptomatic MPS IVA patients to prevent cord compression...

OBJECTIVE: Acute pancreatitis (AP) is a life-threatening disease in children with severe motor and intellectual disabilities (SMID). This study aimed to determine the clinical characteristics and causes of AP in children with SMID. METHODS: We enrolled 29 children with AP admitted to our hospital. Patients were divided into children with SMID (AP with SMID group) and the remaining patients (AP without SMID group). All patients in the AP without SMID group had no pre-existing neurological disabilities...

Glucose impairment is common in preterm infants but the impact of early neonatal hyperglycemia on long term neurodevelopment is still highly controversial. This review reports current evidence of the effect of hyperglycemia on neurodevelopmental outcome. It was conducted according to the PRISMA guidelines. We searched MEDLINE via PubMed; EMBASE via Ovid; the Cochrane Central Register of Controlled Trials; the Cochrane Library; ClinicalTrials.gov; and the World Health Organization's International Trials Registry and Platform...

In the perinatal period the developing brain is extremely vulnerable for a variety of insults. Perinatal conditions, such as extreme prematurity, perinatal asphyxia, and their complications can lead to lifelong sensorimotor, cognitive and behavioral impairment. Prediction of long-term neurodevelopment of preterm and ill term infants at risk for brain injury at an early stage remains a big challenge. Identification of brain lesions and disturbed function is essential for an accurate diagnosis. Currently, the prediction of the outcome is based on a variety of diagnostic tools and clinical assessment of developmental milestones...

AIM: To examine the relationship between assisting hand use in bimanual activities and children's self-care activities and task performance. METHOD: We retrospectively analysed daily functioning (Pediatric Evaluation of Disability Inventory [PEDI]) and bimanual performance (Assisting Hand Assessment [AHA]) data from the assessment of 112 children (mean age: 8 years 10 months [SD 2 years 1 month], range 3 years 7 months-17 years 4 months; 66 males, 46 females) with unilateral spastic cerebral palsy (CP)...

BACKGROUND: Organ transplantation after brain death (BD) of the donor has been promoted in many countries as an established medical treatment. However, some problems with brain-dead organ transplantation have been reported. For example, there is no evidence as to the optimal observation period for a diagnosis and no evidence to support the interpretation of the various body movements observed after the determination of BD. CASE REPORT: A previously healthy 17-month-old girl with severe febrile convulsive status was transferred to our intensive care unit...

BACKGROUND: Healthy sleep is an important component of childhood development. Changes in sleep architecture, including sleep stage composition, quantity, and quality from infancy to adolescence are a reflection of neurologic maturation. Hospital admission for acute illness introduces modifiable risk factors for sleep disruption that may negatively affect active brain development during a period of illness and recovery. Thus, it is important to examine non-pharmacologic interventions for sleep promotion in the pediatric inpatient setting...

AIM: To determine the prevalence of dystonia in individuals with periventricular leukomalacia (PVL) and spastic cerebral palsy (CP), but without basal ganglia and thalamic injury (BGTI) on brain magnetic resonance imaging (MRI). METHOD: This was a retrospective study of individuals with spastic CP and PVL on MRI evaluated between 2005 and 2018 in a CP center. Individuals with non-PVL brain lesions on MRI, including BGTI, were excluded. Dystonia was assessed via blinded review of neurological exam videos by pediatric movement disorders specialists...

INTRODUCTION: Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the phenotypic spectrum of ATP1A3-related disorders. CASE REPORT: We report here a male patient with early developmental delay who at 12 months presented dystonia of the right arm which evolved into hemidystonia at the age of 2...

AIM: To investigate potential changes in mirror movements after Hand and Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) training in children with unilateral cerebral palsy (CP). METHOD: Thirty-one children with unilateral CP (mean age 9 years 4 months, SD 4 years 3 months; range 5 years 4 months-17 years 3 months; 14 females, 17 males) were randomized to either a control or treatment group. After allocation, children were assessed three times: before (T1, baseline) and after (T2) a 2-week interval and again at 3 months after T1 (T3) as follow-up...

PURPOSE: The purpose of this study was to assess the use of diagnostic assessment tools in pediatric physical therapy practice in Spain. Best practice recommendations indicate the timely use of key assessment tools to reduce the age of diagnosis of cerebral palsy (CP). METHODS: Pediatric physical therapists currently working in Spain in early intervention were recruited through targeted physical therapy entities. They were invited to complete the purpose-developed electronic survey, consisting of 45 multiple-choice questions, with 5 thematic blocks...

BACKGROUND: Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is an autoimmune encephalitis characterized by complex neuropsychiatric syndromes and the presence of cerebrospinal fluid (CSF) antibodies against NMDAR. The characteristics of anti-NMDAR encephalitis in children, particularly infants, are unclear due to difficulties in neurologic assessment such as psychiatric symptoms. Additionally, subtle or non-specific findings of conventional magnetic resonance imaging (MRI) make early diagnosis even more difficult...