Neurological and Visual Outcomes in Infants and Toddlers Following Therapeutic Hypothermia for Neonatal Hypoxic-Ischemic Encephalopathy.

BACKGROUND: The majority of studies have investigated neurodevelopmental outcomes, whereas visual impairment is less explored in children with a history of neonatal (hypoxic-ischemic) encephalopathy. Our aim was to perform a detailed neurological and visual assessment and also to investigate the presence of cerebral visual impairment in infants and toddlers with neonatal encephalopathy. METHODS: Thirty participants with a history of neonatal encephalopathy, who had been hospitalized for therapeutic hypothermia, underwent a detailed neurological examination at age five to 36 months. Age-matched, 30 healthy children were also enrolled as a control group. All children in the study and control groups received neurological and a comprehensive ophthalmologic examination, including visual field and visual acuity. Presence of cerebral visual impairment was also evaluated clinically. RESULTS: Rates of cerebral palsy, severe motor impairment, cognitive impairment, epilepsy, and cerebral visual impairment were found to be 20%, 10%, 15.3%, 10%, and 20%, respectively. When compared with healthy controls, oculomotor functions, pupillary light response, refractive parameters, anterior/posterior segment examinations, ocular visual impairment rates, and last, visual acuities were found similar. However, we found a statistically significant increase in visual field defects in our study group. CONCLUSIONS: It could be better to perform a comprehensive ophthalmologic examination including visual field, visual acuity, and oculomotor functions by a pediatric ophthalmologist to accurately diagnose neurovisual deficits in infants following therapeutic hypothermia. Early identification and rehabilitation of the visual deficits might improve the neurodevelopment in these children.

Assessment of the changing trends in maternal knowledge about management of fever and antibiotic use in the last decade in Türkiye.

BACKGROUND: The wrong attitudes of parents on fever create a basis for unnecessary drug use and increased workload. The study was conducted to evaluate the knowledge and attitudes concerning fever and antibiotic use and demonstrate the changes in the last decade. METHODS: This cross-sectional study was composed of two parts, and a total of 500 participants were included. Group 1 (the new group, 50.0%) consisted of 250 participants who participated in the study between February 2020 and March 2020 and Group 2 (the old group, 50.0%) consisted of 250 participants who participated in the study between February 2010 and March 2010. All participants share the same ethnic properties and had been visiting the same center for similar reasons. A validated, structured questionnaire assessing the management of fever and antibiotic use was administered to all mothers. RESULTS: According to the fever assessment scoring, maternal knowledge of fever and its management in children significantly increased (p < 0.001). The antibiotic assessment score also increased in 2020 (p = 0.002). CONCLUSIONS: The public spotlight on the erroneous use of antibiotics and the management of febrile illnesses seems to be promising. Improving maternal/parental educational status and informational advertisements can enhance parental knowledge concerning fever and antibiotic use.

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep.

BACKGROUND: Beck-Fahrner syndrome is caused by homozygous or heterozygous mutations in TET3 on chromosome 2p13. The general characteristics of this syndrome include behavioral abnormalities such as autistic features, attention-deficit hyperactivity disorder, learning disabilities, and epilepsy. CASE PRESENTATION: Six years old male patient was found to have a de novo TET3 loss-of-function variant by whole-exome sequencing (WES) analysis and was diagnosed with electrical status epilepticus during slow-wave sleep (ESES) based on clinical and electroencephalogram (EEG) characteristics. The patient had a neurodevelopmental delay from the age of 3 months and started experiencing generalized tonic-clonic seizures and regression at the age of 5 years. EEG findings were consistent with ESES, and WES analysis revealed a novel heterozygous nonsense NM_001366022.1:c.1594C > T (p.Arg532*) variant in TET3. Valproic acid and immunotherapy were administered for the first 6 months, and clobazam was administered orally in addition to oral valproic acid therapy for the next 6 months. Clinical improvement was noted regardless of EEG improvement for the first 6 months. EEG improvement was achieved with clobazam. No regression was observed following the discontinuation of immunotherapy. CONCLUSION: Decreased TET3 enzyme activity may be one of the new genetic etiologies of ESES.

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.

Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). The associated clinical findings confirm and extend previous descriptions. Considering all patients reported to date, we provide supporting evidence suggesting that ASCC1-related disease has a more severe phenotype compared to TRIP4-related disorder regarding higher incidence of perinatal bone fractures and shorter survival.

Cockayne syndrome type: a very rare association with hemorrhagic stroke.

BACKGROUND: Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism. Genetic diagnosis is supported by the typical physical appearance and imaging findings of these patients. CASE: In our case, a 16-year-old female previously diagnosed as CS presented with right-sided hemiparesis. Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) images showed diffuse cerebral and cerebellar atrophies, volume loss of brain stem, calcification of the bilateral basal ganglia, hemorrhage on the posterior limb of the left internal capsule, thalamus, and posterior periventricular area. CONCLUSIONS: Cockayne syndrome is rarely associated with stroke; we report the clinical and neuroradiologic findings of CS presenting with a hemorrhagic stroke.

Effects of tracheostomy on mothers of children with cerebral palsy.

OBJECTIVE: We aimed to investigate psychosocial changes such as burnout, caregiver burden, depression, and coping in mothers of children with cerebral palsy (CP) after tracheostomy placement. DESIGN: A total of 48 children with CP and chronic respiratory insufficiency and their mothers participated in the study. The children with tracheostomy were classified as T (+) (n = 26) and those who did not have tracheostomy were classified as T (-) (n = 22). The patients with tracheostomy through invasive mechanical ventilation were classified as TIV (+). The data about the clinical conditions of the patients and the sociodemographic characteristics of the mothers were recorded. Zarit caregiver burden, Maslach burnout, Beck depression, and Coping Orientation to Problems Experienced (COPE) questionnaires were applied to all mothers. FINDINGS: Beck depression score was 14 ± 8.24 in T (+) group and 16.09 ± 9.65 in T (-) group (p = .576). There was no significant difference between the T (+) and T (-) groups in the Maslach burnout inventory, Zarit caregiver burden scale, and their subgroups. The first two methods from the COPE scales were identical. In the T (+) group, the third coping method was found as "planning" and in the T (-) group as "active coping". Maslach burnout inventory, Zarit 1, and Zarit 2 scores were higher in patients with only tracheostomy compared to those with TIV (p = .002, p = .018, p = .021). CONCLUSION: In the study presented, the placement of tracheostomy in children with CP does not increase mother's depression tendencies and mood changes.

Pregabalin Treatment of a Patient With Complex Regional Pain Syndrome.

BACKGROUND: Complex regional pain syndrome (CRPS) is a painful and disabling neurovascular condition. There is no consensus on the etiopathogenesis or the treatment. We present a patient with CRPS type 1 accompanied by a psychiatric disorder to discuss the relationship between CRPS and psychiatric disease and to emphasize the response of this case to treatment with pregabalin. PATIENT DESCRIPTION: A 15-year-old girl presented with swelling, severe pain, edema, hyperesthesia, allodynia, and sweating changes in the left arm and was diagnosed as CRPS type 1. The presence of disturbed family relations was revealed on psychiatric examination, and a diagnosis of major depression was made. Her symptoms did not respond to selective serotonin reuptake inhibitors and noradrenergic and specific serotonergic antidepressives, gabapentin, or stellate ganglion blockage, but the patient's pain resolved with pregabalin. Symptom-oriented measures and psychiatric support enabled ongoing treatment. A social services evaluation led to her being placed in the care of social services to protect her from the chaotic and traumatic family life. CONCLUSION: Detailed psycological and psychiatric evaluation is recommended in individuals with CRPS because psychiatric support and improvement of associated psychosocial concerns in addition to pregabalin seems to facilitate treatments in some patients.

Epilepsy classification and additional definitions in occipital lobe epilepsy.

AIM: To evaluate epileptic children with occipital lobe epilepsy (OLE) in the light of the characteristics of Panayiotopoulos syndrome and late-onset occipital lobe epilepsy of Gastaut (OLE-G). METHODS: Patients were categorized into six groups: primary OLE with autonomic symptoms (Panayiotopoulos syndrome), primary OLE with visual symptoms (OLE-G), secondary OLE with autonomic symptoms (P-type sOLE), secondary OLE with visual symptoms (G-type sOLE), and non-categorized primary OLE and non-categorized secondary OLE according to characteristic ictal symptoms of both Panayiotopoulos syndrome and OLE-G, as well as aetiology (primary or secondary). Patients were compared with regards to seizure symptoms, aetiology, cranial imaging, EEG, treatment and outcome. RESULTS: Of 108 patients with OLE (6.4±3.9 years of age), 60 patients constituted primary groups (32 with Panayiotopoulos syndrome, 11 with OLE-G, and 17 with non-categorized primary OLE); the other 48 patients constituted secondary groups (eight with P-type sOLE, three with G-type sOLE, and 37 with non-categorized sOLE). Epileptiform activity was restricted to the occipital area in half of the patients. Generalized epileptiform activity was observed in three patients, including a patient with Panayiotopoulos syndrome (PS). Only one patient had refractory epilepsy in the primary groups while such patients made up 29% in the secondary groups. CONCLUSION: In OLE, typical autonomic or visual ictal symptoms of Panayiotopoulos syndrome and OLE-G do not necessarily indicate primary (i.e. genetic or idiopathic) aetiology. Moreover, primary OLE may not present with these symptoms. Since there are many patients with OLE who do not exhibit the characteristics of Panayiotopoulos syndrome or OLE-G, additional definitions and terminology appear to be necessary to differentiate between such patients in both clinical practice and studies.

The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures.

BACKGROUND: Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the γ2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. METHODS: We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the γ2-subunit of the gamma-aminobutyric acid A receptor. We studied 44 patients with febrile seizure and 49 children without any febrile seizure who were admitted to our clinic. RESULTS: We found that 36% of our patient group, the children who experienced febrile convulsions, had heterozygous R43Q mutation. Statistical studies revealed that heterozygous R43Q mutation of gamma-aminobutyric acid A receptor γ2 subunit was higher in the study group than in the control group (P < 0.01). CONCLUSIONS: Heterozygous gamma-aminobutyric acid A receptor γ2 subunit (R43Q) mutation may have an effect in the development of febrile seizures.

Evaluation of Airway Resistance in Children with Juvenile Idiopathic Arthritis.

Background: Pneumonitis, pleuritis, and pulmonary interstitial infiltration have been described in patients with juvenile idiopathic arthritis (JIA). However, the pulmonary involvement of JIA is not often clinically apparent. There are few studies based on pulmonary function in children having only a diagnosis of JIA. The aim of the present study is to determine whether children with JIA have airway resistance and flow impairments measured by easily applied interrupter technique. Method: We performed interrupter resistance (Rint) measurements in children with JIA and in healthy control subjects who had no respiratory symptoms or diseases. Results: Fifty-eight children with the diagnosis of JIA (Mean age=12.5±2.75 years; range 7-17 years) and 33 healthy subjects (Mean age=11.8±2.62 years; range 6-16 years) were included in the study. The mean value of tidal peak flow during expiration measured by the interrupter technique was significantly lower in the JIA study group (0.73±0.11 L/s) compared to the healthy control group (0.79±0.08 L/s; p=0.01). Rint values measured during inspiration (Rintinsp) and during expiration (Rintexp) were higher in the JIA study group (Rintinsp=0.28±0.16 Kpa/L/s; Rintexp=0.30±0.50 Kpa/L/s) compared to the healthy control group (Rintinsp=0.26±0.11 Kpa/L/s; Rintexp=0.23±0.08 Kpa/L/s; p>0.05). There was also a positive correlation between C-reactive protein level and median expiratory interrupter resistance (Rintexp; r=0.50, p=0.005). Conclusion: The interrupter technique is a noninvasive and feasible technique and can be used to assess airway abnormalities in children with JIA who cannot successfully complete spirometry.