Tuğçe Aksu Uzunhan

Effects of oral motor therapy in children with cerebral palsy

Aim: Oral motor dysfunction is a common issue in children with cerebral palsy (CP). Drooling, difficulties with sucking, swallowing, and chewing are some of the problems often seen. In this study, we aimed to research the effect of oral motor therapy on pediatric CP patients with feeding problems. Materials and Methods: Included in this single centered, randomized, prospective study were 81 children aged 12-42 months who had been diagnosed with CP, had oral motor dysfunction and were observed at the Pediatric Neurology outpatient clinic of the Childrens Health and Diseases Department, Istanbul Medical Faculty, Istanbul University. Patients were randomized into two groups: The training group and the control group. One patient from the training group dropped out of the study because of not participating regularly. Following initial evaluation of all patients by a blinded physiotherapist and pedagogue, patients in the training group participated in 1 h oral motor training sessions with a different physiotherapist once a week for 6 months. All patients kept on routine physiotherapy by their own physiotherapists. Oral motor assessment form, functional feeding assessment (FFA) subscale of the multidisciplinary feeding profile (MFP) and the Bayley scales of infant development (BSID-II) were used to evaluate oral motor function, swallowing, chewing, the gag reflex, the asymmetrical tonic neck reflex, tongue, jaw, and mouth function, severity of drooling, aspiration, choking, independent feeding and tolerated food texture during the initial examination and 6 months later. Results: When the initial and post-therapy FFA and BSID-II scores received by patients in the training and the study group were compared, the training group showed a statistically significant improvement (P < 0.05). Conclusion: Oral motor therapy has a beneficial effect on feeding problems in children with CP.

Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis

Dear Sir, Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of the neuromuscular junction that generally begin in infancy or childhood. The prevalence of CMS is estimated at 1 in 500,000 in Europe [1]. They have a wide clinical spectrum, ranging from mild muscular weakness to life-threatening severe clinical course. Common symptoms include fatigue, muscle weakness, bilateral ptosis, difficulty in chewing and swallowing, respiratory distress, hypoventilation, scoliosis, bulbar and ocular symptoms. Clinical signs may manifest in the neonatal period [2]. This synaptic type of CMS is caused by a mutation in the COLQ gene and is associated with acetylcholinesterase deficiency. It is characterized by shortness of breath, neonatal hypotonia, delayed pupillary light reflex, opthalmoparesis and worsening of symptoms after the use of acetylcholinesterase inhibitors. Salbutamol and ephedrine may be used for treatment [3]. In this case report, we present a patient who was admitted to our clinic with severe scoliosis, muscle weakness and respiratory distress, and was found to carry a homozygous mutation in the COLQ gene and diagnosed with congenital myasthenic syndrome. A 16-year-old female patient was admitted with complaints of fatigue, shortness of breath, bilateral ptosis, difficulty in swallowing and cyanosis during sleep. Physical examination revealed severe scoliosis, bilateral symmetrical ptosis, prominent weakness of proximal muscles, bilateral slow pupillary light response, severe ophthalmoplegia and decreased deep tendon reflexes. Patient history revealed a sibling with hypotonia and similar clinical signs who had been born 3 years earlier than her and died at the age of 6 months due to respiratory problems. In our patient, her mother had felt decreased fetal movements inutero. She was hypotonic since birth and had droopy eyelids since 4 months old. She held her head up at 7 months, started walking at 2 years and had noticeable scoliosis since 2 years of age. She was examined due to hypotonicity at 4 months of age, and congenital myasthenic syndrome was suspected due to clinical signs. During two mestinon tests, she developed bradycardia and cardiac arrest and was performed resuscitation. Creatine phosphokinase levels were normal. Her EMG study revealed a decremental ([10 %) response following 3 Hz repetitive nerve stimulation. A double CMAP of abductor digiti minimi was also found in our patient after stimulation of the ulnar nerve. These findings were consistent with motor end plate dysfunction, and the patient was diagnosed with congenital myasthenic syndrome. After failing to attend follow-up G. S. Duran A. Çıtak Department of Pediatric Intensive Care, Istanbul University, Fatih, Istanbul, Turkey e-mail: drguntulu@hotmail.com

Pediatric Guillain-Barré syndrome: Indicators for a severe course

Objectives: This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, Turkey. Materials and Methods: The data of 40 patients with Guillain-Barré syndrome who had been admitted to the Department of Pediatrics at the Istanbul University Medical Faculty between 2005 and 2011 were collected. Mann-Whitney U, Kruskal-Wallis, chi-square, and Fisher′s exact tests were used for statistical analysis. Results: Mean patient age was 5.4 ± 3.0 years; 20 out of 40 patients (50%) were female and 20 (50%) were male. Preceding infection was detected in 32 cases (80%). Six patients had speech impairment. Out of eight patients with respiratory distress (20%), five required respiratory support (12.5%) of which three of them had speech impairment as well. According to nerve conduction studies, 21 patients (52.5%) had acute inflammatory demyelinating polyradiculoneuropathy, 14 (35%) had acute motor axonal neuropathy, and five (12.5%) had acute motor-sensory axonal neuropathy. Thirty-three patients (82.5%) received intravenous immunglobulin, 3 (7.5%) underwent plasmapheresis and 4 (10%) received both. Time until recovery (P = 0.022) and time until aided (P = 0.036) and unaided (P = 0.027) walking were longer in patients with acute gastrointestinal infection than in those with upper respiratory tract infection (P < 0.05). Time until response to treatment (P = 0.001), time until aided (P = 0.001) and unaided (P = 0.002) walking, and time until complete recovery (P = 0.002) were longer in acute motor axonal neuropathy cases as compared to acute inflammatory demyelinating polyradiculoneuropathy cases. Conclusion: Recovery was longer with acute gastrointestinal infection and acute motor axonal neuropathy. Speech impairment could be a clinical clue for the need of mechanical ventilation.

A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia

Cri-du-chat syndrome is caused by a partial deletion, either terminal or interstitial, of the short arm of chromosome 5.[1] It occurs in 1 of every 50,000 live births and leads to global developmental delay. The main clinical features are a high-pitched cat-like cry (hence the name of the syndrome), distinct facial dysmorphism, microcephaly and severe psychomotor and mental retardation.[2] The clinical picture becomes less striking with advancing age[3] and the catlike cry, the most differentiating feature of the syndrome, disappears as well. An important radiological feature of Cri-du-chat syndrome is hypoplasia of the brainstem mainly involving the pons, cerebellum, median cerebellar peduncles and cerebellar white matter, which can be detected by MRI.[4]

Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome

Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. Patients with seizure reduction ≥50% were considered responders. Most of our patients had severe (47%) or moderate (33%) cognitive disabilities, although 14% had mild cognitive disability. There was a significant difference in both status epilepticus and age between the groups with normal/mild versus severe/moderate neurocognitive prognoses. Of the patients, 85.7% were using stiripentol. The mean duration of stiripentol use was 41.2 months (range: 24-64 months). In 12 patients (57%), the seizure frequency decreased by more than 50%, and 2 of them were seizure-free. Status epilepticus was not recorded after stiripentol treatment in 8 of 11 patients with status epilepticus. Despite the small sample size, our results suggest that stiripentol has a favorable efficacy. In addition, considering the absence of status epilepticus after treatment and the negative effects of status epilepticus on cognitive development, early treatment should be initiated in SD patients, for whom disease control is difficult.

Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up

BACKGROUND Vanishing white matter disease is a heterogeneous disorder caused by mutation in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. It is a heterogeneous disorder due to phenotypic variation and a clear genotype-phenotype correlation could not be established so far. We describe a novel mutation in the EIF2B5 gene by analyzing the clinical phenotype and the progression of brain lesions for 10 years. CASE A novel mutation in the EIF2B5 gene was detected in the heterozygous state; c.1688G > A (p. Arg563Gln) mutation in exon 12, accompanied by a previously detected c.806G > A (p. Arg269Gln) mutation in exon 6, leading to substitution of arginine for a glutamine. This compound heterozygous mutation was associated with disease onset at early childhood and relatively slow progression of neurological deterioration. In contrast to previous findings indicated the association of c.806G > A mutation and peripheral neuropathy in patients with vanishing white matter disease, electromyography of our case was normal. The corpus callosum inner rim was the affected area at early stages, which may be remarkable for early diagnosis of vanishing white matter disease. Serial follow-up magnetic resonance imaging revealed the white matter signal abnormality, subsequently cystic degeneration and decrease in white matter volume. CONCLUSION The novel mutation c.1688G > A in compound heterozygous state leads to intermediate phenotype of the vanishing white matter disease. In the early stages of the disease the signal abnormality in the corpus callosum inner rim might be remarkable.

Coexisting neuronal autoantibodies among children with demyelinating syndromes

OBJECTIVES To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes. METHODS We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl-D-aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls. Prior to initiating immunomodulatory therapy, serum samples were tested for antibodies against NMDAR, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) 1, AMPAR2, leucine-rich glioma-activated protein 1, contactin-associated protein 2, gamma-aminobutyric acid B receptors, paraneoplastic ma antigen 2 (PNMA2/Ta), Yo, Ri, Hu, CV2, amphiphysin, and aquaporin-4 by indirect immunofluorescence assays. RESULTS Three anti-neuronal antibodies were detected; NMDAR antibody in one with multiple sclerosis, PNMA2/Ta antibody in one with multiple sclerosis, and Yo antibody in one with clinically isolated syndrome. The positivity rate of neuronal autoantibodies in demyelinating syndrome was 10%. All seropositive patients were found to be negative for tumor screening. None of these patients exhibited symptoms of encephalitis. CONCLUSION Children with demyelinating syndromes without symptoms of encephalitis can be positive for anti-neuronal antibodies.

Psychosocial and behavioral functioning and their relationship to seizure timing in children with benign epilepsy with centrotemporal spikes

BACKGROUND Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined. PURPOSE We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS. METHODS Consecutive patients with BECTS were recruited from the pediatric neurology outpatient clinic between May 2015 and May 2016. The patients were divided into two subgroups in according to seizure timing; group 1 consisted of patients with seizures only in the morning short before awakening, and group 2 consisted of patients with seizure shortly after falling asleep or in both time periods. Neuropsychological and behavioral evaluation in patients and healthy controls were examined using the Wechsler Intelligence Scale for Children-Revised test and the Turkish version of Strengths and Difficulties Questionnaire (SDQ). RESULTS The participants comprised 46 children with BECTS and 49 healthy controls aged 7-16years. There was no significant difference between group 1, group 2, and control group regarding intelligence quantity in full-scale or verbal and performance subscales. Behavioral scores for overall stress significantly differed between group 2 and controls on the SDQ test, while group 1 and control group had no difference on the SDQ scores. CONCLUSION Patients with BECTS who have seizure shortly after falling asleep may have a tendency towards behavior difficulties.