[Diagnosis and Management of Late-Onset Pompe Disease]. / Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe.

Pompe disease is a lysosomal storage disorder, with onset between the first weeks after birth and adulthood, depending on its phenotype. It can affect multiple organ systems and presents itself with a wide variety of symptoms. Thus, recognizing Pompe disease is difficult. Especially since enzyme replacement therapy for Pompe disease was introduced (in Germany in 2006), early diagnosis by means of enzyme activity determination from dried blood spot analysis and genetic verification has become important for outcome and quality of life. When facing an obscure muscular disorder, it is crucial to consider Pompe disease. This article provides an overview about Pompe disease and focuses on the diagnosis of the late onset type. The most important aspects of interdiciplinary care for patients with Pompe disease are presented. Additionally, it contains a section focusing on psychosocial challenges for children with Pompe disease and their families, which may include mental disorders and social retreat, and gives advice on how to support parents of affected children.

Enhanced Nitric Oxide (NO) and Decreased ADMA Synthesis in Pediatric ADHD and Selective Potentiation of NO Synthesis by Methylphenidate.

Attention deficit hyperactivity disorder (ADHD) is a common pediatric psychiatric disorder, frequently treated with methylphenidate (MPH). Recently, MPH's cardiovascular safety has been questioned by observational studies describing an increased cardiovascular risk in adults and blood pressure alterations in children. We considered members of the L-arginine (Arg)/nitric oxide (NO) pathway as possible early cardiovascular risk factors in pediatric ADHD children. They include the NO metabolites, nitrite and nitrate, the NO precursor Arg, and asymmetric dimethylarginine (ADMA), an endogenous NO synthase (NOS) inhibitor and a cardiovascular risk factor in adults. We conducted a prospective clinical trial with 42 ADHD children (aged 6-16 years) with (n = 19) and without (n = 23) MPH treatment. Age-matched children without ADHD (n = 43) served as controls. All plasma and urine metabolites were determined by gas chromatography-mass spectrometry. We observed higher plasma nitrite and lower plasma ADMA concentrations in the ADHD children. MPH-treated ADHD children had higher plasma nitrite concentrations than MPH-untreated ADHD children. As NOS activity is basally inhibited by ADMA, MPH treatment seems to have decreased the inhibitory potency of ADMA. Percentiles of systolic blood pressure were higher in MPH-treated ADHD children. The underlying mechanisms and their implications in the MPH therapy of pediatric ADHD with MPH remain to be elucidated in larger cohorts.

Perspectives of clinical medical directors in child and adolescent psychiatry: diagnostic and treatment needs of migrant families.

Germany is one of many nations characterized by an increasing number of children originating from families with a migration background. Medical treatment modalities will be required to adjust for diversity of social and cultural background. Initiated by the Federal Society of Child and Adolescent Psychiatry (BKJPP), representing mainly those psychiatrists working in private practice, and by the Federal Working Commission of Medical Directors employed in Child and Adolescent Psychiatric Clinics (BAG), a questionnaire was constructed to identify mental health professionals' (psychiatrists') evaluation of the needs and quality of diagnosis and treatment for migrant families. The current study focused on medical directors and deputy chief physicians in clinics for child and adolescent psychiatry. Preliminary results of this survey - implementing descriptive statistics as well as univariate and multivariate statistical analyses - permitted an assessment of the current state of identification and treatment of migrant offspring attending child and adolescent psychiatric practices in Germany. Recommendations and concrete steps are offered, which aim to promote "cultural opening", and assist in health and social policy makers' decisions for improved mental health care.

Health and educational performance among young migrants.

This study is a part replication of an earlier study by on health efficacy, educational attainment and well-being among 30 nations. It includes, however, data from these nations, as well as the latest Pisa results and update socioeconomic data and sociological variables which include divorce rate, number of persons/household, employment rates, and measures of physical and mental health (including new scales of well-being, e.g., mental health index, life satisfaction, suicide rates). More importantly, it includes measures of migrant rates among children and adults in each country, the focus of attention of this article. New material on health and educational expenditure are provided.

Subjective models of psychological disorders: mental health professional's perspectives.

This exploratory study is an extension of previous studies which have applied personal construct theory (PCP) methodology toward a better understanding of the structure and dynamics of multidisciplinary mental (and physical) health care (Kirkcaldy and Pope, 1992; Kirkcaldy et al., 1993, 2000, 2005; Kirkcaldy and Siefen, 1999). In this study we wanted to use similar cluster statistical analyses, not unlike PCP analysis, to identify the diverse subjective models of psychological ailments such as anxiety, depression, psychosis, mania, obsessive compulsive disorder (OCD), post stress traumatic disorder (PTSD), etc., using not the idiosyncratic constructs generated by individual triadic element comparisons, but by selecting those constructs which have been clearly identified in various psychiatric and psychological rating scales (e.g. somatic preoccupation, social withdrawal, conceptual disorganization, hostility, disinhibition and controlling). Clinical experts (psychological psychotherapists, and medical psychotherapist and psychiatrist) each with over 25 years of clinical and research experience were required to complete the ratings of each disorder listed in terms of the pre-formulated behavioral, emotional and cognitive concepts. What emerged are several multivariate (grid) analyses based on mental health professionals' perception of diverse elements (disorders) and their interrelationship derived from the similarity of composite profiles of ill-related constructs. Overall, the analyses revealed clear associations between the subjective evaluations of psychological ailments suggesting some uniformity in mental health assessment of such disorders. The implications of these findings are discussed within the theoretical framework of improved mental health care.