[The Cognitive, Language and Motor Development of Prenatal Methamphetamine- and Opioid-exposed Children]. / Die kognitive, sprachliche und motorische Entwicklung pränatal methamphetamin- und opioid-exponierter Kinder.

OBJECTIVE: The consumption of illegal substances during pregnancy is an increasing social and medical issue. Main substances of prenatal drug exposure are beside tehtrahydrocannabinol (THC), opioids and methamphetamine. The effect of these substances on the long-term development of children remains uncertain. METHODS: Since 2012 newborn infants born at the university hospital of children at Leipzig which were prenatal exposed to drugs were followed long-term at the out-patient clinic for child protection. For 42 children with prenatal opioid or methamphetamine exposure the developmentent was analysed using the Bayley Scales (BSID III) at the age of 2-3 years. The children were compared with 84 unexposed control children. One case matched to 2 controls, adapted by age, gender, gestational age and birth weight. RESULTS: Motoric development between prenatal methylamphetamine, opioid exposed children and the control group showed no significant difference. Methylamphetamine exposed children (n=23) At 2 exposure show significantly lower scores in cognition and language (79,1 compared 95,9 of the control group), opioid exposed children have a slight cognitive deficits with a medium score of 91,7 (n=19). 56% of the methamphetamine group were developmentally retarded at the measurement date. Additionally, children had significant lower Bayley Scores which had single parent and/ or low educational and professional qualifications of their caregiver. Both substances increased the risk of postnatal complications to 46-53% despite of similar gestational ages in all groups. CONCLUSION: Children with prenatal methamphetamine or opioid exposure seem to have cognition and language deficits at 2 and 3 years of age. Methamphetamine might have a higher negative effect than opioids. The psychosocial risk factors associated with parental drug abuse are important for achieving age-appropriate development.

[Methamphetamine Consumption During Pregnancy and its Effects on Neonates]. / Methamphetaminkonsum während der Schwangerschaft und dessen Auswirkungen auf das Neugeborene.

OBJECTIVE: Methamphetamine (MA) has become one of the most commonly used illegal drugs during pregnancy. We sought to determine how MA abuse modifies pregnancy outcomes and the health of the newborn infants. Patients 102 newborns from mothers with antenatal MA consumption were admitted to the University Hospital Leipzig from 2004-2015. METHODS: The effects of MA abuse on pregnancy outcomes and neonates were researched in a retrospective controlled study. We analysed the date of pregnancy detection, number of antenatal preventive examinations, body measurements of the neonates, duration of hospitalization, rate of preterm infants, congenital malformations and symptoms of neonatal abstinence syndrome. RESULTS: The majority of pregnancies of MA abusing women were diagnosed during the 2. trimester and they had a median of 4 prenatal care visits. The group of MA exposed neonates includes twice as many preterm neonates as the control group (MA:20,6%; CG:10,7%). The consumption was associated with intrauterine growth restriction, an increased incidence of poor cardio respiratory adaptation, cardiac defects and a floppy muscle tone. The median time of hospitalization was 10d as compared to a control group (CG:5d). Special care was needed in 44% of the neonates (CG:0,98%). The median age of primiparous women was 22.5 yr (CG:30 yr), 4.9% were married (CG:38%). 57 of 102 women were unemployed. CONCLUSION: Because of the adverse effects of perinatal MA abuse a multidisciplinary team is necessary to detect the consumption, to alleviate side effects and to provide efficient medical care for the newborns. Psychological and social support for the families are also important.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

BACKGROUND: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or atypical phenotypes. We report on the diagnostic work-up in a boy with sialidosis type I, presenting initially with marked cherry red macular spots but non-specific urinary oligosaccharide patterns and unusually mild excretion of bound sialic acid. METHODS: Biochemical, enzymatic and genetic tests were performed in the patient. The clinical and electrophysiological data was reviewed and a genotype-phenotype analysis was performed. In addition a systematic literature review was carried out. CASE REPORT AND RESULTS: Cherry red macular spots were first noted at 6 years of age after routine screening myopia. Physical examination, psychometric testing, laboratory investigations as well as cerebral MRI were unremarkable at 9 years of age. So far no clinical myoclonic seizures occurred, but EEG displays generalized epileptic discharges and visual evoked potentials are prolonged bilaterally. Urine thin layer chromatography showed an oligosaccharide pattern compatible with different LSD including sialidosis, galactosialidosis, GM1 gangliosidosis or mucopolysaccharidosis type IV B. Urinary bound sialic acid excretion was mildly elevated in spontaneous and 24 h urine samples. In cultured fibroblasts, α-sialidase activity was markedly decreased to < 1%; however, bound and free sialic acid were within normal range. Diagnosis was eventually established by multigene panel next generation sequencing of genes associated to LSD, identifying two novel, compound heterozygous variants in NEU1 gene (c.699C > A, p.S233R in exon 4 and c.803A > G; p.Y268C in Exon 5 in NEU1 transcript NM_000434.3), leading to amino acid changes predicted to impair protein function. DISCUSSION: Sialidosis should be suspected in patients with cherry red macular spots, even with non-significant urinary sialic acid excretion. Multigene panel next generation sequencing can establish a definite diagnosis, allowing for counseling of the patient and family.

Epilepsy in children and adolescents: Disease concepts, practical knowledge, and coping.

PROBLEM: Children suffering from epilepsy face severe difficulties in daily life. However, data about the self-assessment of children are scarce. METHODS: From October 2013 to February 2014, patients aged 6-18years suffering from epilepsy were consecutively invited (i) to take part in a structured interview and (ii) to draw a picture about their self-assessment of epilepsy. RESULTS: Eighty-four children and their parents agreed to participate: (i) 63/84 (75%) of the children named their disease correctly; contagiousness was assumed by 8/84 (10%); 81/84 (96%) knew whether they have to take medication; 36/69 (52%) of the children taking long-term medication reported the name(s) of their medication; 8/69 (12%) believed that their medication will cure their disease; 45/84 (54%) named specific precautions to prevent harm from seizures; 6/84 (7%) believed that nonadherence to safety precautions would cause new seizures; and 23/84 (27%) believed that they are worse off than healthy children. (ii) 67/84 (80%) drew a picture titled "This is how I feel when I have a seizure". Specific symptoms [17/67 (25%)] and the interaction between child and environment [12/67 (18%)] were the most common subjects. CONCLUSION: Most children with epilepsy had rather good knowledge about medication; half of the children knew specific safety precautions. The children were often able to describe their seizures well. Pictures drawn by patients can give an insight into their experiences. Teaching programs should, among others, address the fear of contagiousness of epilepsy in some children and the fact that children with epilepsy might feel disadvantaged.

Use of complementary and alternative medicine (CAM) by parents in their children and adolescents with epilepsy - Prevelance, predictors and parents' assessment.

BACKGROUND: The use of complementary and alternative medicine (CAM) is popular. Parents of children suffering from epilepsy may also consider administering CAM to their children. Systematic data about frequency of and motivations for CAM use, however, are scarce. METHODS: In a university hospital's neuropaediatric department parents of patients aged 0-18 years suffering from epilepsy were consecutively invited to take part in a structured interview during 4 months in 2014. RESULTS: Of the invited parents, 164/165 (99%) agreed to participate. From those, 21/164 (13%) stated that they used CAM in their child. The highest independent predictive value of CAM use was the occurrence of adverse drug events (ADE) of anticonvulsants as judged by parents. Patients affected by ADE had a 5.6 higher chance of receiving CAM compared to patients without ADE. Most commonly used were homeopathy (14/21, 67%) and osteopathy (12/21, 57%). The internet was the most frequently used source of information (14/21, 67%). Of the parents, 10/21 (48%) described positive effects of CAM on seizure frequency, 12/21 (57%) on general condition of their child, and 20/21 (95%) wished to continue CAM for epilepsy therapy. From the non-users of CAM, 91/143 (66%) expressed the desire to learn more about CAM for epilepsy therapy. LIMITATIONS: Our study was performed in a university hospital in a large urban city in Eastern Germany. CAM user rates can differ in other parts of Germany and Europe, in other institutions and for chronic diseases other than epilepsy. CONCLUSION: The main reason for CAM use was the occurrence of ADE of anticonvulsants. More than half of the parents saw a benefit of CAM for their children. Almost all parents wished to continue CAM use, even those who did not see concrete positive effects.

["What is important to paediatric practitioners regarding their working relationships with a university hospital?"]. / "Was ist für niedergelassene Kinderärztinnen und Kinderärzte in ihrer Arbeitsbeziehung zu einer Universitätsklinik wichtig"?

BACKGROUND: Quality management is part of Good Medical Practice. Surveys of both patient satisfaction and collaborative aspects of medical care amongst physicians in hospital and primary care are essential. METHODS: In February 2006, 92 questionnaires were distributed among office-based paediatricians in Leipzig and its suburbs. Until the reply deadline, which was in April 2006, 43 of the questionnaires had been completed and returned. The questionnaire examined attitudes of the referring physicians towards the hospital. RESULTS: Considering all answers, the Children's Hospital of the University of Leipzig received a positive rating. The results were influenced both by the age of the responding physicians and by the answer to the question of whether the respondents had previously been employed by the Children's Hospital of the University of Leipzig. CONCLUSION: This survey revealed important data on the attitudes of practitioners towards the strengths and weaknesses of the hospital. As a result, concrete measures could be implemented to enhance this co-operation with general practitioners.

Almost normal cognitive function in patients during therapy for childhood acute lymphoblastic leukemia without cranial irradiation according to ALL-BFM 95 and COALL 06-97 protocols: results of an Austrian-German multicenter longitudinal study and implications for follow-up.

In a multicenter study the authors prospectively investigated neurocognitive function in childhood ALL patients. Sixty-six patients (mean age at diagnosis 7.9 +/- 3.6 years, 34 female), treated with repeated intrathecal and systemical methotrexate administrations without cranial irradiation, underwent psychometric testing for intelligence, concentration, and visual-motor integration postdiagnosis and after reinduction therapy. Although there was a statistically significant decline of intellectual function after reinduction therapy for younger patients and girls (IQ scores still within normative data range), there were no differences in visual-motor performance and concentration over the time of induction therapy. Thus, neurocognitive examination should focus on younger ALL patients and girls.