Beata Kazek

Fecal lactoferrin and Clostridium spp. in stools of autistic children

Stools from autistic and healthy children were studied for fecal lactoferrin, Clostridium difficile toxins, Clostridium perfringens enterotoxin and cultured for Clostridium spp. Elevated level of FLA was demonstrated in 24.4% stools, all from boys (31.25%). No toxins were detected. Clostridium spp. was isolated with similar frequency from all samples. C. perfringens were isolated significantly often from the autistic stools, intermediate sensitive strains to penicillin 19%, to clindamycin 11.3%, and to metronidazole 7.5% were detected. Further studies on fecal microflora and inflammatory mediators, with larger groups of patients, are required in order to explain their role in neurological deficits.

CYP3A5∗3 and C3435T MDR1 Polymorphisms in Prognostication of Drug-Resistant Epilepsy in Children and Adolescents

Drug-resistant epilepsies still remain one of the most profound problems of contemporary epileptology. Several mechanisms of drug resistance are possible; among them, genetic factors have a prominent place. Much importance is attached to genes, which encode enzymes that metabolize antiepileptic drugs CYP 3A, which belong to the family of cytochromes P450 and the genome of multidrug resistance, such as multidrug resistance 1 (MDR1) that expresses P-glycoprotein (P-gp), a drug transporter protein. The aim of the study was to assess the relation between polymorphism of gene CYP3A5 and polymorphism C3435T of MDR1 gene with the occurrence of focal, drug-resistant epilepsy in children and youths up to 18 years of age. The study comprised 85 patients, and their age range was from 33 months to 18 years of age, suffering from epilepsy, partly responding well to treatment, partly drug resistant. The polymorphism of both genes has been analysed using the PCR-RFLP method. The study failed to corroborate association between polymorphism CYP3A5∗3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. The results of our research do not confirm the prognostic value of the polymorphisms examined in the prognostication of drug resistance in epilepsies.

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

Pantothenate kinase—associated neurodegeneration (PKAN) is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. The authors present 3 patients with proven molecular diagnosis of PKAN, in whom 2 novel mutations of PANK2 gene have been identified.

Polymorphism of ABCB1/MDR1 C3435T in Children and Adolescents with Partial Epilepsy is due to Different Criteria for Drug Resistance – Preliminary Results

Background The diagnosis of “drug resistance” in epilepsy can be defined and interpreted in various ways. This may be due to discrepant definitions of drug resistance to pharmacotherapy. The aim of our study was to investigate the relationship between C3435T polymorphism of the MDR1 gene and drug resistance in epilepsy with the consideration of 4 different criteria for qualification to groups sensitive and resistant to applied pharmacotherapy. Material/Methods Evaluation of C3435T polymorphism of MDR1/ABCB1 gene was conducted on a group of 82 white children and young adolescents up to 18 years old. While qualifying the patients to the group of sensitive or drug resistant, the following 4 definitions of drug resistance were applied: the ILAE’s, Appleton’s, Siddiqui’s, and Berg’s. Results A detailed analysis of genotypes of the MDR1 gene did not show any significant discrepancies between the groups of patients resistant and sensitive to antiepileptic drugs (AEDs) in 4 consecutive comparisons taking into consideration various criteria of sensitivity and resistance to pharmacotherapy. Conclusions The obtained results clearly confirm the lack of a connection between the occurrence of drug-resistant epilepsy and C435T polymorphism of the MDR1 gene irrespective of the definition of drug resistance applied to the patient.

Headaches as somatoform disorders in children and adolescents

Somatoform disorders are often the main cause for seeking professional advice and performing a number of specialist checks. The aim of the study was to determine the frequency of somatoform disorders in the form of headaches in children and adolescents neurologically diagnosed and the risk factors thereof. Analysis of the biological and situational risk factors were established. Somatoform disorders were diagnosed in 27 out of 276 children with headaches. We concluded that in the differential diagnosis of headaches, somatoform headaches should not be omitted as every 10th patient in the developmental age diagnosed on the neurological ward because of headache shows signs of somatoform headaches. In diagnostically difficult cases it is recommended that analysis of biological and situational risk factors be performed with special attention paid to chronic disease of the patient and/or in his immediate family, the patient’s psychological disorders and dysfunctional or low social status families. The creation of separate criteria for somatoform disorders of the developmental age should be considered.

The assessment of awareness of child abuse among certain social groups

Child abuse is an act of doing something or failing to do something that result in harm to a child or puts a child at risk of harm. Although the occurrence of child abuse in our society is a serious problem, the statistics often remain unreliable. The purpose of our research was an assessment of the knowledge, attitudes and experiences among physicians, medical students and teachers of reporting child abuse and neglect. The questionnaire containing questions about the demographic data of our respondents and questions regarding the analysed subject was created. The resultswerestatisticallyanalyzed using the Chi-square Test. Theinvestigatedgroup consisted of139 teachers, 131 medical studentsand53 physicians. Amongthephysicians, specialists with more than 10 yr of experience constituted 83% with a predomination of pediatricians. Among the teachers, those with more than 10 yr of experience constituted 67%. Medical journals and professional trainings were the main source of knowledge for the physicians, while television and radio were the source of knowledge for teachers significantly more often than with others groups. The majority of respondents encountered cases of child abuse (physicians 74%, students 29%, and teachers 58%). In spite of their declared knowledge about child abuse the majority of physicians and medical students claim that low social status and uneducated families are the risk factors of child maltreatment, while the majority of teachers are aware there is no difference ( P< 0.000001). The majority of respondents encountered cases of child abuse but their knowledge of child maltreatment still remains insufficient. It is considered reasonable to extend the range of obligatory professional trainings.

The Prenatal and Perinatal Risk Variables of the Sensory Processing Disorder

Sensory Processing Disorder has a negative effect on a child’s functioning. The etiology and pathomechanics of sensory processing disorder has not yet been fully identified. The prenatal and perinatal variables have been described as the significant causes. The purpose of this work was to determine the most common and presently occurring prenatal and perinatal problems that may serve as the predictors of SPD. The studied group consisted of 89 children with identified sensory processing disorder and no other neurological disorders. The control group consisted of 88 children within the same age group which were healthy and did not suffer from the sensory processing disorder. The retrospective data from the prenatal and perinatal periods were collected through a questionnaire, prepared specifically for the purpose of this project. Besides that, the complex assessment of the children consisted of a pediatrics neurologic and physiotherapy/SI diagnosis examination. The age appropriate checklist, prepared by the American Occupational Therapy Association, has also been used. In the case of children between the ages of 7 months to 3 years old, Georgia A. De Gangi’s Infant-Toddler Symptom Checklist was applied. Furthermore, during the examination, the therapist applied the Clinical Observation Checklist as well as the South Carolina Sensory Integration Tests trials for the children above 4 years old. It has been demonstrated that there is a predilection towards the type of sex in sensory processing disorder, and it occurs three times more frequently among boys than among girls, in the studied group. Among all analyzed variables, six of them occurred statistically significantly more frequently in the group with the sensory processing disorder. Considering the frequency of occurrence, those variables included the following: a low birthweight, a low Apgar score at 1 min, infections and cervical insufficiency, and, less frequently occurring, placental abruption. The multivariable analysis demonstrates that the concurrence of two out of six risk variables with the highest prediction results in 80% probability of the emergence of sensory processing disorder, and the concurrence of 3 variables results in 90% of that probability. Our research study results indicate that the children with the prenatal and perinatal history should be under a specialized multidisciplinary supervision at least until they start school. In case of the concurrence of two and more variables, such supervision should be mandatory.

Auditory Processing Disorder (APD) – Be vigilant and aware

Auditory Processing Disorder (APD) are defects of the auditory sense, which result from abnormalities in the functioning of the auditory path at the level of the central nervous system from the center of the Cochlea to the auditory cortex. This is a problem that 2-3% of children, aged 7-14 suffer from in Poland. The aim of this paper is to establish a spectrum of the most common symptoms as well as to determine the most common age range of the children that have been diagnosed. A retrospective analysis was conducted, based on the medical documentation of patients diagnosed and treated in the audiological clinic. The examined group consisted of 215 children ages 6 to 18. The inclusion criteria were as follows: normal peripheral hearing and an IQ indicator of at least 85. Data was analyzed with the use of STATISTICA 9.1 program. The highest number of children were admitted with problems connected to writing (78,15%), reading (69,77%), and concentrating (60,93%). The most common symptomsamong patients who have been diagnosed with APD)were as follows: late speech development (96%), speech defects (91,4%), problems with learning a language (91,67%). The most numerous group represented were patients aged 10 to 12 (40,93%). The accuracy of the initial diagnosis was the highest in the 6 to 7 age group (96,15%). The results of this paper speak for the necessity of increasing APD awareness among people close to a child as the problems that emerge are common and a lot of the diagnoses late. Correspondence to: Beata Kazek, Neurological Clinic, John Paul II Upper Silesian Child Health Centre, Poniatowskiego 15, Katowice, Poland, E-mail: neurologia@gczd.katowice.pl / beakazek@op.pl

Step-Initiation Deficits in Children with Faulty Posture Diagnosed with Neurodevelopmental Disorders during Infancy

Background Early detection of movement deficits during step initiation will facilitate the selection of the optimal physiotherapy management strategy. The main aim of the study was to assess potential differences in step initiation between 5- and 6-year-old children with faulty posture who had been diagnosed with neurodevelopmental disorders during infancy and healthy children. Methods The experimental group consisted of 19 children aged 5–6 years with faulty posture, who had been diagnosed with neurodevelopmental disorders during infancy and were given physiotherapy in the first year of their lives. The control group comprised 19 nursery school children aged 5–6 years with no postural defects, no history of postural control or movement deficits, and no physiotherapy interventions in the first year of their lives. Step initiation was performed on force platforms under various conditions, i.e., with and without an obstacle, stepping up onto a platform placed at a higher level, stepping down onto a platform placed on a lower level. The recording of center of foot pressure (COP) displacements was divided into three phases: phase 1 (P1)—quiet standing before step initiation, phase 2 (P2)—transit, phase 3 (P3)—quiet standing until measurement completion. Results The Tukey post hoc test showed that the means of sway range (raCOP) and mean velocity (vCOP) in sagittal (AP) plane for phase 1 and vCOP in frontal (ML) plane for phase 3 registered in the step-up trial were significantly higher (p < 0.05) in children with faulty posture compared to children with typical development. P1vCOPML, P3vCOPAP, P3raCOPML, and P3vCOPMLof the step-down trial were also significantly higher in children with faulty posture (p < 0.05). Conclusion Inclusion of functional movement exercises (stair-walking tasks) in physiotherapy interventions for children with postural defects seems well justified. The trial was registered in the Australian and New Zealand Clinical Trials Registry (no. ACTRN12617001068358).