Teriflunomide in pediatric patients with relapsing multiple sclerosis: Open-label extension of TERIKIDS.

BACKGROUND: The double-blind TERIKIDS study demonstrated the efficacy and safety of teriflunomide. OBJECTIVE: To evaluate the efficacy, safety, and tolerability of continuous teriflunomide treatment in the TERIKIDS open-label extension. METHODS: In the double-blind period, children with relapsing MS were randomized to placebo or teriflunomide (14 mg adult-equivalent dose) for ⩽ 96 weeks. Participants received teriflunomide for ⩽ 192 weeks post-randomization in the open-label extension. RESULTS: The mean age at screening was 14.6 years. For teriflunomide/teriflunomide versus placebo/teriflunomide, estimated clinical relapse risk was reduced by 38% (hazard ratio (HR) 0.62; 95% confidence interval (CI) 0.39-0.98; p = 0.11) and numbers of gadolinium-enhancing T1 and new/enlarging T2 lesions were reduced by 43% (relative risk (RR) 0.570; 95% CI 0.33-0.98; p = 0.043) and 49% (RR 0.511; 95% CI 0.34-0.76; p = 0.001), respectively, in the combined double-blind and open-label periods. There was a trend toward reduced risk of 24-week sustained disability progression for teriflunomide/teriflunomide versus placebo/teriflunomide (HR 0.47; 95% CI 0.23-0.96). During the open-label extension, incidences of safety-related discontinuations were 4.0% (teriflunomide/teriflunomide) and 13.5% (placebo/teriflunomide), including two children who developed pancreatitis in the teriflunomide/teriflunomide group. CONCLUSION: Teriflunomide reduced the long-term risk of focal inflammatory activity, with generally manageable tolerability and no new safety signals. Further evidence would strengthen clinical efficacy findings.ClinicalTrials.gov: NCT02201108.

Evaluation of neurocognitive and social developments after craniosynostosis surgery.

OBJECTIVE: The study focused on assessing the potential neurocognitive and social developmental issues in children with non-syndromic craniosynostosis (NSC) who received optimal surgical treatment. The primary objective was to determine whether NSC, even after optimal surgical treatment, could have negative effects on brain development. METHODS: The study included a total of 73 pediatric patients aged between 2 and 6 years who had previously undergone surgery for NSC at the Gazi University Faculty of Medicine, Department of Neurosurgery. These patients were carefully matched with 107 healthy children who visited the outpatient clinic of the same department in terms of sociodemographic characteristics such as age, gender, and social status. To assess the neurocognitive and social development of the participants, the child psychologist administered a developmental scale to the child and his/her family via video conference. This scale was adapted from the Bayley-III Infant and Child Development Scale by the Gazi University Faculty of Medicine, Division of Pediatric Neurology. RESULTS: The study found no social or gross motor developmental issues in patients who had undergone optimal surgical treatment for NSC. However, the risk of fine motor developmental deficiencies was 4.79 times higher than that of the normal population, and the risk of language developmental deficiencies was 5.75 times higher than that of the normal population. CONCLUSIONS: Despite timely treatment of NSC, long-term neurocognitive and social development issues may arise in affected children. Therefore, it is crucial to monitor these patients after completing surgical treatment and thoroughly examine their development using a multidisciplinary approach.

The effect of apoprotein E gene polymorphism on neurocognitive functions of children with CHD.

Studies have demonstrated an association between CHD and neurodevelopmental delay. This delay is associated with many factors like reduced blood flow and oxygen, cardiac catheterisations, and genetic factors. Apo E gene polymorphism is one of these genetic factors. This study aims to show the effect of Apo E gene polymorphism on neurodevelopmental process in children having CHD. A total of 188 children having CHD were admitted to the study. Apo E gene polymorphism of these patients was determined, and psychometric evaluation was performed. The relationship between psychometric test results and gene polymorphism was evaluated. This study shows that, similar to the literature, patients having cyanotic CHD have worse scores than acyanotic patients, and the children with CHD are under risk in terms of neuropsychiatric disorders. Other novel and important findings of this study were the lower verbal scores of ε2 allele carriers than ε4 carriers in Wechsler Intelligence Scale for Children-Revised group and the worse test score of patients having VSD than other acyanotic patients. Besides, some special disorders may be seen in this patient group.

Psychosis: a rare onset symptom of pediatric multiple sclerosis.

Neuropsychiatric symptoms are common in multiple sclerosis (MS), but it is rarely associated with psychosis as the initial manifestation. Fourteen-year-old boy admitted with auditory hallucinations. His neurological examination was normal. Brain magnetic resonance imaging (MRI) showed multiple demyelinating lesions in the mesencephalon and periventricular regions. His IgG index was high and the oligoclonal band was positive. MS was diagnosed and pulsed corticosteroids were given and his psychotic symptoms regressed. After 22months, the patient presented with hemi-hypoesthesia, and repeated MRI showed new contrast enhancing lesion detected. His complaints completely resolved with pulse corticosteroid therapy. Increasing morbidity due to delay in MS treatment underlines the need to consider MS in the differential diagnosis of pediatric cases presenting with psychosis.

Influence of Intensive Care Unit Enlightenment on Premature Infants on Functional Brain Maturation Assessed by Amplitude-Integrated Electroencephalograph.

OBJECTIVE: Amplitude-integrated electroencephalograph (aEEG) presents a valuable tool for functional brain maturation of preterm infants. However, the effect of enlightenment on functional brain maturation of premature infants has not been investigated. We aimed to do this with aEEG. STUDY DESIGN: A total of 32 infants, 30 to 35 gestational weeks, were involved in the study. They were randomly distributed into three groups in which different lighting protocols were applied. In group 1, the infants' incubators were covered for 24 hours. In group 2, the infants' incubators were open for 24 hours. In group 3, the infants' incubators were covered for 12 hours and open for another 12 hours. The infants are evaluated with aEEG recordings done on the 3rd (first measurement) and 10th days (second measurement) along with the Burdjalov scoring. Analysis of aEEG recordings was performed, based on sleep-wake cycles (SWCs), upper and lower margin amplitudes, narrowband and broadband of SWC, and bandwidth of SWC. RESULTS: At first, the narrowband lower amplitudes in group 1 were higher than those of the other groups (p = 0.042), but the difference was not significant in the second measurement (p = 0.110). The Burdjalov scores were higher in group 1 and group 3 on 10th day, though not statistically significant (p = 0.871). When the infants were re-evaluated according to the gestational weeks, the Burdjalov scores of the two groups less than 34 weeks (30-31 and 32-33 weeks) were similar, whereas 34 to 35 weeks were higher when compared with those of the two groups. CONCLUSION: The difference observed between groups in terms of narrowband lower amplitude in the first measurement may reflect the effect of intrauterine environment rather than enlightenment at the same gestational age because it was made on the third day. However, the fact that all groups have similar results on day 10 suggests that other factors in the intensive care setting may diminish the effect of enlightenment. Burdjalov scores are associated with maturation, and high scores found in the 34- to 35-week group suggest that the 34-week maturation might be a threshold for SWC and development in our group sample.

Evaluation of state and trait anxiety levels of parents and children before electroencephalography procedures: A prospective study from a tertiary epilepsy center.

BACKGROUND: Inadequate or misinformation about electroencephalography (EEG) and epilepsy may lead to anxiety in children and their parents. The purpose of this study was to make a simultaneous evaluation of the anxiety levels of children and parents before EEG procedures and to make a brief assessment of their knowledge about EEG. METHODS AND MATERIALS: Children aged between 8 and 18 years who were referred for EEG tests at Department of Pediatric Neurology, Gazi University Faculty of Medicine, Ankara, Turkey and their parents were included in the study, prospectively. Data were collected through Personal Information Forms; an EEG questionnaire form, which questioned the knowledge of the participants about EEG; the Spielberger's State-Trait Anxiety Inventory (STAI) to determine anxiety levels of the parents; and the State-Trait Anxiety Inventory for Children-State form (STAIC) to determine the anxiety levels of the children. The following parameters were collected in a database: demographic data about children and parents (sex, age), indication of suspected diagnosis on EEG request (i.e., the referral diagnosis), history of epilepsy, number of EEG recordings, and results of previous EEG recordings. The state and trait anxiety test results of the children were compared between the girls and boys, between age groups, and their parents' results in terms of both trait and state anxiety in terms of EEG, sex, ages, educational levels, and working. RESULTS: Eighty-five children (mean age: 13.25 ±â€¯3.02 years) and 85 parents (mean age: 41.16 ±â€¯7.65 years) were included in the study. The children's mean trait anxiety score was 32.51 ±â€¯8.09, and the mean state anxiety score was 34.97 ±â€¯7.62. Half of the children who had a trait anxiety score of ≤30 points had increased state anxiety levels because they received more than 30 points in the state anxiety evaluation score. No significant differences were found between the boys and girls in terms of the state and trait anxiety scores (p > 0.05). The parents' mean trait anxiety score was 39.16 ±â€¯7.74, and the mean state anxiety score was 42.74 ±â€¯6.22. Forty (47%) parents were found to have trait anxiety, and 52 (61.2%) parents had state anxiety before the EEG. The trait anxiety score of the mothers was statistically significantly higher than that of the fathers (p < 0.01). The investigation of the knowledge level of both parents and children about EEG demonstrated some misunderstandings or points of insufficiency. CONCLUSION: The present study revealed that both parents and children had insufficient knowledge about EEG, and the procedure caused anxiety for both the parents and children. When EEG procedures are requested, parents and children should be given brief information about EEG and epilepsy. We think that in this way, the knowledge of both parents and children about this issue may be increased and their anxiety may be decreased.

Decrease in Cerebral Oxygen Saturation During the 6-Minute Walk Test in Pediatric Pulmonary Arterial Hypertension.

This observational study aimed to investigate the relationship between regional cerebral oxygen saturation (rSO2) during the 6-minute walk test (6-MWT) and the demographic/clinical features of patients with pulmonary arterial hypertension (PAH). Cerebral oxygenation was evaluated during the 6-MWT in 20 pediatric patients with PAH aged ≥ 7 years [13 male, 7 female; median age 12.25 (range 7-18) years]. In all patients, regional cerebral oxygen saturation    (rSO2), arterial oxygen saturation (SpO2), and heart rate (HR) were measured using near-infrared spectroscopy (NIRS) for 2 min before the test, during the 6-MWT test, and 2 min after the test. The relationship between the changes in rSO2, heart rate, and SpO2 values and clinical and laboratory features was compared statistically. The mean pulmonary arterial pressure (mPAP) was 77 (range 25-126) mmHg, and the median 6-minute walk distance (6-MWD) was 427.5 (300-570) m. The changes in rSO2 measurements ranged between 3.41 and 21.8%, and 70% of the patients had a greater than 10% decrease in rSO2 during the test compared with baseline. Eight patients showed a decrease in rSO2 without SpO2 changes. The present study demonstrated a significant decrease in cerebral oxygenation in pediatric patients with PAH during the 6-MWT. We hypothesized that using a combination of the 6-MWT and regional cerebral oxygenation monitoring in pediatric patients with PAH in order to evaluate exercise capacity, as a reflection of reduced daily activities, would provide more precise predictive values than the 6-MWT alone.

Temporary Seizure in an Infant Who Had Been Exposed to G-Amino Butyric Acid Receptor Antagonist Thiocolchicoside.

Seizure is the most common presentation of neurological disorder in the pediatric emergency care setting. In evaluating the child after a first seizure, the first consideration should be determining if the seizure was provoked or unprovoked. Investigation listing the causes of the first seizure is considerably long, and adverse drug reactions must be in mind. Epileptic seizures after using thiocolchicoside (TCC) have been reported in several adult patients with epilepsy and acute brain injury. We present a previously healthy 3-month-old female infant who was admitted to the emergency department with a generalized seizure after exposure to TCC. To the best of our knowledge, this is the first case of a child who had an epileptic seizure after TCC intake via breastfeeding in the literature.

Multiple Sclerosis with Onset Younger Than 10 Years in Turkey.

OBJECTIVE: To identify the demographics, clinical characteristics, disease course, treatment patterns, and disability levels of multiple sclerosis (MS) patients with onset under the age of 10 years (early onset multiple sclerosis, EOMS). METHODS: EOMS patients were reviewed retrospectively in detailed records from 27 child neurology centers. Patients with preschool (≤7 years) and school age (>7 years) onset were compared. RESULTS: There were 30 children (16 girls, 14 boys) who have disease onset between 4 and 10 (mean8.1 ± 1.8) years. MS was relapsing-remitting in 29 (96.7%) and primary progressive in one (3.3%) of the patients. In patients with onset ≤7 years, motor symptoms (54.5%) and encephalopathy (45.5%) predominated, while in those with onset >7 years brainstem (42.1%), sensory (26.3%), and optic nerve (26.3%) involvement were the most frequent presentations. CONCLUSIONS: MS starting ≤7 years differs from the 7-10-year-old group by the higher rate of motor symptoms and more attacks in the first year: the latter suggests a more inflammatory character for EOMS.

Investigation of the Relationship Between Sensory Processing and Motor Development in Preterm Infants.

OBJECTIVE: The aim of this study was to analyze the correlation between sensory processing and motor development in preterm infants. METHOD: We included 30 preterm and 30 term infants with corrected and chronological ages between 10 and 12 mo. We used the Test of Sensory Functions in Infants to evaluate sensory processing and the Alberta Infant Motor Scale to evaluate motor development. RESULTS: The Spearman correlation test indicated a strong positive relationship between sensory processing and motor development in preterm infants (r = .63, p < .001). CONCLUSION: Given the relationship between sensory processing and motor development in the preterm group, the evaluation of sensory processing and motor development in preterm infants was considered necessary for the effective implementation of physiotherapy assessment and interventions.

Regional brain volume reduction and cognitive outcomes in preterm children at low risk at 9 years of age.

OBJECTIVE: More information is needed on "low-risk" preterm infants' neurological outcome so that they can be included in follow-up programs. A prospective study was performed to examine the regional brain volume changes compared to term children and to assess the relationship between the regional brain volumes to cognitive outcome of the low-risk preterm children at 9 years of age. PATIENTS: Subjects comprised 22 preterm children who were determined to be at low risk for neurodevelopmental deficits with a gestational age between 28 and 33 weeks without a major neonatal morbidity in the neonatal period and 24 age-matched term control children term and matched for age, sex, and parental educational and occupational status. METHODS: Regional volumetric analysis was performed for cerebellum, hippocampus, and corpus callosum area. Cognitive outcomes of both preterm and control subjects were assessed by Weschler Intelligence Scale for Children Revised (Turkish version), and attention and executive functions were assessed by Wisconsin Card Sorting Test and Stroop Test TBAG version. RESULTS: Low-risk preterm children showed regional brain volume reduction in cerebellum, hippocampus, and corpus callosum area and achieved statistical significance when compared with term control. When the groups were compared for all WISC-R subscale scores, preterm children at low risk had significantly lower scores on information, vocabulary, similarities, arithmetics, picture completion, block design, object assembly, and coding compared to children born at term. Preterm and term groups were compared on the Stroop Test for mistakes and corrections made on each card, the time spent for completing each card, and total mistakes and corrections. In the preterm group, we found a positive correlation between regional volumes with IQ, attention, and executive function scores. Additionally, a significant correlation was found between cerebellar volume and attention and executive function scores in the preterm group. CONCLUSION: Low-risk preterm children achieve lower scores in neurophysiological tests than children born at term. Preterm birth itself has a significant impact on regional brain volumes and cognitive outcome of children at 9 years of age. It is a risk factor for regional brain volume reductions in preterm children with low risk for neurodevelopmental deficits. The significant interaction between cerebellar volume reduction and executive function and attention may suggest that even in preterm children at low risk can have different trajectories in the growth and development of overall brain structure.

Symptomatic capillary telangiectasia of the pons: three pediatric cases diagnosed by suspectibility-weighted imaging.

INTRODUCTION: Brain capillary telangiectasias (BCT) are small, clinically benign, usually asymptomatic and rarely seen lesions during childhood. Large symptomatic BCT during childhood are extremely rare, with only a few reports in the literature. They usually cannot be detected easily on conventional magnetic resonance imaging and angiography. METHODS: We present the first pediatric case series of large pontine BCT presenting with distinct symptoms and in whom the lesions were detected by susceptibility-weighted imaging (SWI), for the first time to date. SWI provides a crucial imaging modality for BCT. RESULTS: We suggest that the combination of signal intensity loss on SWI and focal enhancement in a lesion otherwise not seen on conventional MR images is diagnostic for BCT and serves to discard serious differential diagnoses with high specificity, reassuring patients and referring physicians. CONCLUSION: We would like to emphasize clinical and radiological findings of BCT and utility of SWI images on MRI for the confirmation of diagnosis in the pediatric age group.

Opsoclonus-myoclonus syndrome following rotavirus gastroenteritis.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurologic disorder characterized by opsoclonus, myoclonus, ataxia and behavioral disturbance. In the pathogenesis, an autoimmune process with infectious or paraneoplastic trigger has been suggested. We describe the case of a 22-month-old girl with OMS following rotavirus gastroenteritis. Rotavirus should be considered in the differential diagnosis of OMS in children.

Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.

BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri­ or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.

Celiac disease and catatonia: more than a coincidence?

BACKGROUND: Catatonia is a complex neuropsychiatric disorder involving stupor, waxy flexibility, and mutism lasting more than 1 hour. It has arisen mostly from mental and neurologic disorders. Organic causes are more prominent in children. CASE: A 15-year-old female who had refused to eat and drink for 3 days, had not talked, and had stood in a fixed position for long periods was admitted to the inpatient clinic, and she was diagnosed with catatonia. Her maximum score on the Bush-Francis Catatonia Rating Scale (BFCRS) was 15/69 on day 2 of her stay. On neurologic examination, the patient`s cooperation was limited, and she was apathetic to her surroundings and stimuli and inactive. Other neurologic examination findings were normal. To investigate catatonia etiology, her biochemical parameters, thyroid hormone panel, and toxicology screening were conducted but all parameters were normal. Cerebrospinal fluid examination and autoimmune antibodies were negative. Sleep electroencephalography showed diffuse slow background activity, and brain magnetic resonance imaging was normal. As a first-line treatment for catatonia, diazepam was started. With her poor response to diazepam, we continued to evaluate the cause and found the transglutaminase levels were 153 U/mL (normal values, < 10 U/mL). The patient`s duodenal biopsies showed changes consistent with Celiac disease (CD). Catatonic symptoms did not benefit from a gluten-free diet or oral diazepam for 3 weeks. Then, diazepam was replaced with amantadine. With amantadine, the patient recovered within 48 hours, and her BFCRS retreated to 8/69. CONCLUSIONS: Even without gastrointestinal manifestations, CD may present with neuropsychiatric symptoms. According to this case report, CD should be investigated in patients with unexplained catatonia, and that CD may only present with neuropsychiatric symptoms.

Short-term effects of SAFE early intervention approach in infants born preterm: A randomized controlled single-blinded study.

OBJECTIVE: Recent literature suggests that goal-oriented and family-based interventions in enriched environment have a beneficial effect on neuromotor and cognitive development. We aimed to examine the short-term effects of SAFE (Sensory strategies, Activity-based motor training, Family collaboration, and Environmental Enrichment) early intervention approach on motor, cognitive, speech and language, and sensory development in preterm infants. METHODS: The study's sample population consisted of 24 preterm infants with corrected ages between 9 and 10 months. Infants in the control group participated in the family training program in accordance with the neurodevelopmental therapy principles (NDT). Infants in the treatment group were included in the family training program according to the principles of the SAFE Early Intervention Approach. Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS), Test of Sensory Functions in Infants (TSFI), Canadian Occupational Performance Measure (COPM), and Bayley Scales of Infant and Toddler Development III (Bayley III) were used to evaluate infants in both groups before and after 10 weeks of treatment (AHEMD-IS). The Depression, Anxiety, Stress Scale Short Form was used to assess the parents' mental health (DASS-SF). RESULTS: The interaction effects (time × group) revealed significant differences for Bayley-III cognitive and language scores, TSFI total score, and AHEMD-IS total score in favor of the SAFE group (p < .05). However, there were no differences in Bayley-III motor composite score, COPM Performance score, and COPM Satisfaction score between the interaction effects (time × group) of the groups (p > .05). CONCLUSIONS: SAFE early intervention approach improved cognitive, speech and language, sensory outcomes and provide enriched home environment in all domains when compared to NDT-based home program. SAFE is a promising novel early intervention approach for preterm infants.

Sleep assessment in preterm infants: Use of actigraphy and aEEG.

OBJECTIVE: Objective methods to monitor the sleep of preterm infants at the neonatal intensive care unit (NICU) are required to prevent potentially adverse neurodevelopmental outcomes. This study aimed to determine the concordance of actigraphy and amplitude-integrated electroencephalogram (aEEG) against gold standard direct observation (DO) in assessing sleep/wake states of typically developing preterm infants. METHODS: This prospective observational study was conducted in a single center level III NICU. Sleep variables were measured using Philips Respironics Mini-Mitter® Actiwatch-2 for 24 h and compared with 8-h matched data of aEEG and DO. Sensitivity-specificity analysis, Cohen's kappa, prevalence-adjusted and bias-adjusted kappa (PABAK), and Bland Altman plots were generated. RESULTS: Seventeen preterm infants were recruited. A total of 11252 epochs were studied. Sensitivity (86.4%), agreement rate (67.9%), and predictive value for wake (47.9%) for the actigraphy were highest at the automatic activity threshold whereas specificity (54.5%) and predictive value for sleep (75.5%) were highest at low threshold. The sensitivity of aEEG was 79.3% and the specificity was 54.3%. At all thresholds, the agreement was largely equivalent with low kappas (0.14-0.17) and PABAK coefficients (0.22-0.35) for actigraphy and DO. Moderate agreement was observed between aEEG and DO according to the PABAK coefficient (0.44). Mean differences in sleep parameters were not different between DO and aEEG as well as DO/aEEG and actigraphy at medium threshold (p > 0.05). CONCLUSIONS: Actigraphy at medium threshold can be used in depicting sleep in typically developing preterm infants at NICU. aEEG may be an alternative adjunctive method to actigraphy for the evaluation of sleep/wake states in the NICU setting. CLINICAL TRIAL REGISTRATION NUMBER: NCT04145362.

ALG11-CDG: novel variant and review of the literature.

OBJECTIVES: Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay. CASE PRESENTATION: A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures, microcephaly and deafness. The electroencephalography (EEG) showed a burst-suppression pattern without hypsarrhythmia. Basal metabolic investigations were unremarkable. Progressive cerebral atrophy, hypomyelination and corpus callosum hypoplasia were striking features in brain MRI images taken during our follow-up. Compound heterozygous mutations of the ALG11 gene were found by whole exome sequencing (WES) analysis. It was determined that the c.476T>C mutation is a novel mutation. CDG type 1 pattern was detected with the examination of carbohydrate-deficient transferrin (CDT) by capillary zone electrophoresis. CONCLUSIONS: In patients with a possible congenital defect of glycosylation, a screening test such as CDT analysis is suggested. To discover novel mutations in this rare disease group, expanded genetic analysis should be performed.

Effects of caffeine therapy for apnea of prematurity on sleep and neurodevelopment of preterm infants at 6 months of corrected age.

STUDY OBJECTIVES: To determine the differences in sleep patterns between preterm infants who received caffeine and those who did not and to evaluate the effects of caffeine therapy on early neurodevelopment. Secondarily, actigraphy and polysomnography were compared to evaluate the sleep of preterm infants. METHODS: Twenty-eight preterm infants ages 28-34 weeks admitted to a single-center Level III neonatal intensive care unit between May 2020 and May 2021 were included. Sleep was assessed by actigraphy for 72 hours with Respironics Mini-Mitter® Actiwatch-2 and Brief Infant Sleep Questionnaire at 6 months corrected age. On the first day of actigraphy, infants underwent polysomnography between 10:00 am and 3:00 pm. Neurodevelopment was evaluated by the Bayley Scales of Infant and Toddler Development-III, the Ages & Stages Questionnaire, and the Hammersmith Infant Neurological Examination. RESULTS: There were no significant differences in sleep parameters measured by actigraphy, the Brief Infant Sleep Questionnaire, and polysomnography between infants in the caffeine group (n = 12) and no-caffeine group (n = 16). Sensitivity (91.07%) and agreement rate (77.21%) for the actigraphy against polysomnography were highest at the automatic threshold. No significant differences were observed in the neurodevelopment of infants in the caffeine group compared to the no-caffeine group. CONCLUSIONS: Sleep parameters and neurodevelopmental outcomes were not different in infants at 6 months of corrected age with regard to caffeine therapy. Actigraphy at the automatic threshold can be used in infants for sleep pattern assessment. CLINICAL TRIAL REGISTRATION: Registry: ClinicalTrials.gov; Name: Influence of Caffeine Therapy in Preterm Infants; URL: https://www.clinicaltrials.gov/ct2/show/NCT04376749; Identifier: NCT04376749. CITATION: Atalah YEY, Baris HE, Akdere SK, et al. Effects of caffeine therapy for apnea of prematurity on sleep and neurodevelopment of preterm infants at 6 months of corrected age. J Clin Sleep Med. 2023;19(12):2075-2085.