Neuropediatrics最新文献

Introduction:  Acute altered mental status (AAMS) is often a challenge for clinicians, since the underlying etiologies cannot always easily be inferred based on the patient's clinical presentation, medical history, or early examinations. The aim of this study is to evaluate the role of electroencephalogram (EEG) as a diagnostic tool in AAMS of unknown etiology in children.

Materials and methods:  We conducted a prospective study involving EEG assessments on children presenting with AAMS between May 2017 and October 2019. Inclusion criteria were age 1 month to 18 years and acute (<1 week) and persistent (>5 minutes) altered mental status. Patients with a known etiology of AAMS were excluded. A literature review was also performed.

Results:  Twenty patients (median age: 7.7 years, range: 0.5-15.4) were enrolled. EEG contributed to the diagnosis in 14/20 cases, and was classified as diagnostic in 9/20 and informative in 5/20. Specifically, EEG was able to identify nonconvulsive status epilepticus (NCSE) in five children and psychogenic events in four. EEG proved to be a poorly informative diagnostic tool at AAMS onset in six children; however, in five of them, it proved useful during follow-up.

Conclusions:  Limited data exist regarding the role of EEG in children with AAMS of unknown etiology. In our population, EEG proved to be valuable tool, and was especially useful in the prompt identification of NCSE and psychogenic events.

Background:  Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (LIS1/PAFAH1B1, DCX, DYNC1H1, TUBA1A, TUBG1) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports.

Results:  All but two patients were diagnosed with epilepsy. Median age at seizure onset was 6 months (range: 2.1-42.0), starting with epileptic spasms in 70%. Standard treatment protocols with hormonal therapy (ACTH or corticosteroids) and/or vigabatrin were the most effective approach for epileptic spasms, leading to seizure control in 47%. Seizures later in the disease course were most effectively treated with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, resulting in seizure freedom in 20%. Regarding psychomotor development, lissencephaly patients presenting without epileptic spasms were significantly more likely to reach various developmental milestones compared to patients with spasms.

Conclusion:  Classic lissencephaly is highly associated with drug-resistant epilepsy starting with epileptic spasms in most patients. The standard treatment protocols for infantile epileptic spasms syndrome lead to freedom from seizures in around half of the patients. Due to the association of epileptic spasms with an unfavorable course of psychomotor development, early and reliable diagnosis and treatment of spasms should be pursued. For epilepsies occurring later in childhood, ASM with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, appears to be most effective.

Background:  Due to the limited data from clinical trials and real-world settings in the realm of nusinersen, there is a need for further evidence. This study seeks to assess the impact of nusinersen, when combined with standard care, on bulbar function, respiratory function, and the necessity for respiratory support among pediatric patients with spinal muscular atrophy (SMA).

Methods:  Prospective observational study, involving pediatric SMA patients (Types 1-3) undergoing nusinersen treatment at the Hospital Universitario Virgen del Rocío in Spain over at least 24 months. The cohort included 11 SMA type 1 patients, comprising 6 type 1b and 5 type 1c, 12 SMA type 2 patients, and 5 SMA type 3 patients.

Results:  Twenty-eight pediatric patients were enrolled with the majority being male (n = 20). Patients with type 1 were diagnosed and received treatment significantly earlier than those with types 2 and 3 (p < 0.001). Additionally, there was a longer period between diagnosis and the start of treatment in types 2 and 3 (p = 0.002). Follow-up revealed statistically improved functional and respiratory outcomes associated with earlier initiation of nusinersen treatment at 6, 12, and 24 months in all phenotypes. The ability to swallow and feed correctly remained unchanged throughout the study, with SMA type 1c patients maintaining oral feeding in contrast to patients with SMA type 1b. Notably, no deaths were recorded.

Conclusions:  This study provides important insights into the real-world clinical progress of pediatric SMA patients and their response to nusinersen treatment, highlighting the significance of early intervention for better functional and respiratory outcomes.

Background:  Hydrocephalus is a neurological disease with higher prevalence in the pediatric population, often managed by placing a shunt. This hollow tube drains excess cerebrospinal fluid from the brain to other body parts, resulting in several complications, including neurological and psychometric manifestations and a compromised quality of life (QoL). This study aimed to evaluate QoL in patients with hydrocephalus shunt placement within the pediatric population.

Methods:  This prospective observational study was conducted in two major Pakistani tertiary care hospitals. A total of 100 subjects were enrolled, of which 52 were found eligible. A validated questionnaire, Hydrocephalus Outcome Questionnaire, was used to evaluate patients' QoL.

Results:  This study included pediatric patients with a mean age of 6.54 years and a standard deviation of ± 2.64. The male-to-female ratio was 27:25; 2% of patients had congenital or tumor-induced hydrocephalus, while cases of meningitis, encephalocele, and encephalitis accounted for 8, 4, and 2%, respectively. Myelomeningocele had the highest prevalence at 16%. The overall health scores range from 0.39 to 0.51. Social, cognitive, and physical health scores have mean values of 0.54, 0.50, and 0.48, respectively. The minimum physical health score is 0.17, indicating the most significant impact of hydrocephalus on physical function.

Conclusion:  This study highlights variations in hydrocephalus severity among pediatric patients, impacting their overall QoL, primarily physical and behavioral functioning. Worse health outcomes were associated with frequent seizures, prolonged hospital stays for diagnosis and treatment, shunt infections, increased number of shunt catheters, and longer travel distances to medical facilities.

This article describes how the Gross Motor Ability Estimator (GMAE) software can provide important information based on the Gross Motor Function Measure (GMFM)-66 score of a child with congenital Zika syndrome.A child was assessed at 9, 17, and 25 months of age through the GMFM-66. At 2 years, the child's gross motor ability was estimated and classified according to the Gross Motor Function Classification System (GMFCS).At 2 years of age, the child in this case required assistance to roll and was unable to maintain antigravity trunk posture in sitting position, typical abilities of GMFCS level V.GMAE can be useful to guide health professionals that care for children with lifelong physical and developmental care needs. This is the first study that demonstrated how to use the GMAE in this specific population.

Background:  Very few studies have examined the relationship between calcitonin gene-related peptide (CGRP) and amylin levels and the disease in patients with migraine. The purpose of this study was to compare blood CGRP and amylin levels between pediatric migraine patients and healthy controls and the relationship between CGRP and amylin levels and migraine attack frequency and duration.

Methods:  The study involved two separate groups-control and migraine. Thirty-two patients aged 6 to 18 years presenting to the Balikesir University Medical Faculty pediatric neurology clinic and diagnosed with migraine were included. The control group consisted of 32 patients without migraine presenting to the clinic during the same time frame. The patients' demographic data, personal and family histories, migraine type and frequency, headache severity, basic anthropometric measurements (height, weight, and body mass index), and physical and neurological examination findings were recorded. Migraine patients were classified as ictal if the collection of blood specimens coincided with the attack period and as interictal if this was performed between attacks.

Results:  No statistically significant differences in mean CGRP or amylin levels were determined between the groups (migraine ictal/interictal) or between the migraine patients (in terms of gender or attack frequency and duration).

Conclusion:  Elucidating the complex processes involved in the pathogenesis of migraine is important in terms of our ability to develop new treatments and therapeutic strategies. This study aimed to evaluate CGRP and amylin levels in patients with pediatric migraine (in the ictal and interictal periods) compared with those in healthy controls.

Background:  Autism spectrum disorder (ASD) is often accompanied by comorbid conditions such as attention deficit hyperactivity disorder and epilepsy. In this context, patients are often treated with psychostimulants in an attempt to control behavioral symptoms. This study aims to understand the behavioral effects of psychostimulants in children with ASD and investigate if interictal epileptiform discharges on electroencephalogram (EEG) can act as a modifying factor in this behavior.

Methods:  Sixty-eight patients with ASD who were being accompanied in the Department of Child and Adolescent Psychiatry of the Centro Hospitalar Universitário de São João and had previously done an EEG assessment answered a questionnaire regarding their behavioral response to psychostimulants.

Results:  In total, 47.4% of patients reported improved agitation, 56.1% enhanced concentration, and 8.8% improved sleep. Conversely, 28.1% experienced worsened agitation, 15.8% worsened concentration, and 17.5% worsened sleep. The remaining reported no alterations. The age of diagnosis correlated significantly with improved agitation, with a higher diagnosis age being associated with a higher probability of improvement. Extended-release methylphenidate and genetic variations were significantly associated with worsening of agitation. Regarding speech, 86% exhibited no changes, while 14% showed alterations, mostly, 87.5%, characterized as negative. For other behavioral alterations, 45.6% reported negative changes, 3.5% reported positive changes, and 50.9% reported no additional alterations. Female gender was significantly associated with other negative behavioral changes. A significant correlation was found between treatment duration and the probability of improvement in agitation, concentration, and other behavioral changes.