Development of a modular ICF-based core set for the German substance use disorders treatment.

PURPOSE: We aimed to develop a modular Core Set based on the International Classification of Functioning, Disability and Health (ICF) for describing functioning in patients with substance use disorders (SUDs). To match the structure of the German health service system, the Core Set was split into modules for different service segments. METHODS: We followed a consensus process including several preparatory studies. To identify candidate ICF categories, we performed an ICF linking of guideline-recommended assessments, patient focus groups and patient and expert surveys. Categories were prioritized for different service segments and compiled into preliminary modules. The Core Set was tested in 13 treatment sites. Health professionals rated each category's relevance, and contents of the Modular ICF-based Core Set for SUDs (MCSS) were compared to patient-reported treatment goals. An advisory board decided on revisions to the MCSS. RESULTS: The MCSS consists of a basic module (25 categories) and five additional modules for these treatment segments: counselling (8), qualified withdrawal (6), orientation (7), rehabilitation (32), and social integration services (10). CONCLUSIONS: The MCSS provides a framework for harmonizing communication, documentation and interface management in German SUD health services. The basic module, consisting of 25 categories, can be employed as a Brief ICF Core Set.Implications for rehabilitationThe MCSS can serve as a standard for describing functioning in patients with SUDs in Germany, as well as harmonize communication and reporting of treatment relevant information.In clinical practice, the MCSS can be used for the structured assessment of psychosocial problems and participation restrictions, goal setting, and outcome evaluation.Although the MCSS was developed in Germany, its proximity to the themes frequently identified in the literature regarding SUDs internationally suggests that it may be of use in other countries as well.The basic module may be employed as a Brief ICF Core Set.

[Lesions of the triceps tendon : Diagnostics, management, treatment]. / Läsionen der Trizepssehne : Diagnostik, Management, Therapie.

The triceps brachii muscle is the main extender of the elbow joint. Triceps tendon rupture or tearing presents a rare injury pattern in general. Distal tendon ruptures occur most commonly in the area of the insertion of the olecranon. Fractures of the radial head are reported as the most common concomitant injury. In many cases, pre-existing degenerative damage predisposes for tendon injury. These include local steroid injections, anabolic steroid abuse, renal insufficiency requiring dialysis, hyperparathyroidism, lupus erythematosus and Marfan's syndrome. However, the most frequent trauma mechanism is a direct fall onto the extended forearm or a blow to the elbow. Beside clinical examination and sonography, magnetic resonance imaging is the diagnostic gold standard. The treatment of triceps tendon injuries includes conservative as well as operative approaches, whereby the indications for surgical treatment must be generously considered depending on the patient's age, functional demands of the patient, involvement of the dominant extremity as well as on the extent of the tendon rupture.

Health care providers' weight management practices for adolescent obesity and alignment with clinical practice guidelines: a multi-centre, qualitative study.

BACKGROUND: Clinical practice guidelines (CPGs) include evidence-based recommendations for managing obesity in adolescents. However, information on how health care providers (HCPs) implement these recommendations in day-to-day practice is limited. Our objectives were to explore how HCPs deliver weight management health services to adolescents with obesity and describe the extent to which their reported practices align with recent CPGs for managing pediatric obesity. METHODS: From July 2017 to January 2018, we conducted a qualitative study that used purposeful sampling to recruit HCPs with experience in adolescent weight management from multidisciplinary, pediatric weight management clinics in Edmonton and Ottawa, Canada. Data were collected using audio-recorded focus groups (4-6 participants/group; 60-90 min in length). We applied inductive, semantic thematic analysis and the congruent methodological approach to analyze our data, which included transcripts, field notes, and memos. Qualitative data were compared to recent CPGs for pediatric obesity that were published by the Endocrine Society in 2017. Of the 12 obesity 'treatment-related' recommendations, four were directly relevant to the current study. RESULTS: Data were collected through three focus groups with 16 HCPs (n = 10 Edmonton; n = 6 Ottawa; 94% female; 100% Caucasian), including dietitians, exercise specialists, nurses, pediatricians, psychologists, and social workers. We identified three main themes that we later compared with CPG recommendations, including: (i) discuss realistic expectations regarding weight management (e.g., shift focus from weight to health; explore family cohesiveness; foster delayed vs instant gratification), (ii) personalize weight management (e.g., address personal barriers to change; consider developmental readiness), and (iii) exhibit non-biased attitudes and practices (e.g., de-emphasize individual causes of obesity; avoid making assumptions about lifestyle behaviors based on weight). Based on these qualitative findings, HCPs applied all four CPG recommendations in their practices. CONCLUSIONS: HCPs provided practical insights into what and how they delivered weight management for adolescents, which included operationalizing relevant CPG recommendations in their practices.

Size-dependent influence of NOx on the growth rates of organic aerosol particles.

Atmospheric new-particle formation (NPF) affects climate by contributing to a large fraction of the cloud condensation nuclei (CCN). Highly oxygenated organic molecules (HOMs) drive the early particle growth and therefore substantially influence the survival of newly formed particles to CCN. Nitrogen oxide (NOx) is known to suppress the NPF driven by HOMs, but the underlying mechanism remains largely unclear. Here, we examine the response of particle growth to the changes of HOM formation caused by NOx. We show that NOx suppresses particle growth in general, but the suppression is rather nonuniform and size dependent, which can be quantitatively explained by the shifted HOM volatility after adding NOx. By illustrating how NOx affects the early growth of new particles, a critical step of CCN formation, our results help provide a refined assessment of the potential climatic effects caused by the diverse changes of NOx level in forest regions around the globe.

End-user perspectives to inform policy and program decisions: a qualitative and quantitative content analysis of lifestyle treatment recommendations by adolescents with obesity.

BACKGROUND: Lifestyle modifications represent the first line of treatment in obesity management; however, many adolescents with obesity do not meet lifestyle recommendations. Given that adolescents are rarely consulted during health policy development and in the design of lifestyle interventions, their first-hand experiences, preferences, and priorities may not be represented. Accordingly, our purpose was to explore adolescents' lifestyle treatment recommendations to inform policy and program decisions. METHODS: Conducted from July 2017 to January 2018, this study adhered to a qualitative, crosslanguage, patient-oriented design. We recruited 19 13-17-year-old adolescents (body mass index [BMI] ≥85th percentile) seeking multidisciplinary treatment for obesity in geographically and culturally diverse regions of Canada. Adolescents participated in one-on-one, in-person, semi-structured interviews in English or French. Interviews were audio-recorded, transcribed verbatim, managed using NVivo 11, and analyzed using quantitative and qualitative content analysis by two independent researchers. RESULTS: Adolescents' recommendations were organized into five categories, each of which denotes health as a collective responsibility: (i) establish parental support within limits, (ii) improve accessibility and availability of 'healthy foods', (iii) limit deceptive practices in food marketing, (iv) improve accessibility and availability of varied physical activity opportunities, and (v) delay school start times. Respect for individual autonomy and decision-making capacity were identified as particularly important, however these were confronted with adolescents' partial knowledge on nutrition and food literacy. CONCLUSIONS: Adolescents' recommendations highlighted multi-level, multi-component factors that influenced their ability to lead healthy lifestyles. Uptake of these recommendations by policy-makers and program developers may be of added value for lifestyle treatment targeting adolescents with obesity.

Edmonton Obesity Staging System for Pediatrics, quality of life and fitness in adolescents with obesity.

BACKGROUND: Body mass index (BMI) is often used to diagnose obesity in childhood and adolescence but has limitations as an index of obesity-related morbidity. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) is a clinical staging system that uses weight-related comorbidities to determine health risk in paediatric populations. The purpose of this study was to investigate the associations of EOSS-P and BMI percentile with quality of life (QOL), cardiorespiratory fitness (CRF) and muscular strength in adolescents with obesity. METHODS: Participants were enrolled at baseline in the Healthy Eating, Aerobic and Resistance Training in Youth trial (BMI = 34.6 ± 4.5 kg m-2, age = 15.6 ± 1.4 years, N = 299). QOL, CRF (peak oxygen uptake, VO2peak) and muscular strength were assessed by the Pediatric QOL Inventory (PedsQL), indirect calorimetry during a maximal treadmill test and eight-repetition maximum bench and leg press tests, respectively. Participants were staged from 0 to 3 (absent to severe health risk) according to EOSS-P. Associations were assessed using age-adjusted and sex-adjusted general linear models. RESULTS: Quality of life decreased with increasing EOSS-P stages (p < 0.001). QOL was 75.7 ± 11.4 in stage 0/1, 69.1 ± 13.1 in stage 2 and 55.4 ± 13.0 in stage 3. BMI percentile was associated with VO2peak (ß = -0.044 mlO2 kg-1 min-1 per unit increase in BMI percentile, p < 0.001), bench press (ß = 0.832 kg per unit increase in BMI percentile, p = 0.029) and leg press (ß = 3.992 kg, p = 0.003). There were no significant differences in treadmill time or VO2peak between EOSS-P stages (p > 0.05). CONCLUSION: As EOSS-P stages increase, QOL decreases. BMI percentile was negatively associated with CRF and positively associated with muscular strength.

[Rupture of the distal biceps tendon]. / Rupturen der distalen Bizepssehne.

With an incidence of 3% of all biceps tendon injuries, rupture of the distal biceps tendon is a rare injury but can be associated with significant functional impairment of the elbow. In case of a complete rupture, the diagnosis can be made clinically with a pronounced power deficit, in particular for supination of the forearm. In cases of unclear symptoms magnetic resonance imaging should be included. Regarding the therapeutic approach, there is general consensus in the current literature that surgical treatment with anatomical reconstruction of the tendon footprint is superior to the conservative approach. Various surgical techniques with good biomechanical and clinical results are currently available but no clear superiority of a single technique has so far been demonstrated.

Outcomes and outcome measures used in evaluation of communication training in oncology - a systematic literature review, an expert workshop, and recommendations for future research.

BACKGROUND: Communication between health care provider and patients in oncology presents challenges. Communication skills training have been frequently developed to address those. Given the complexity of communication training, the choice of outcomes and outcome measures to assess its effectiveness is important. The aim of this paper is to 1) perform a systematic review on outcomes and outcome measures used in evaluations of communication training, 2) discuss specific challenges and 3) provide recommendations for the selection of outcomes in future studies. METHODS: To identify studies and reviews reporting on the evaluation of communication training for health care professionals in oncology, we searched seven databases (Ovid MEDLINE, CENTRAL, CINAHL, EMBASE, PsychINFO, PsychARTICLES and Web of Science). We extracted outcomes assessed and the respective assessment methods. We held a two-day workshop with experts (n = 16) in communication theory, development and evaluation of generic or cancer-specific communication training and/or outcome measure development to identify and address challenges in the evaluation of communication training in oncology. After the workshop, participants contributed to the development of recommendations addressing those challenges. RESULTS: Out of 2181 references, we included 96 publications (33 RCTs, 2 RCT protocols, 4 controlled trials, 36 uncontrolled studies, 21 reviews) in the review. Most frequently used outcomes were participants' training evaluation, their communication confidence, observed communication skills and patients' overall satisfaction and anxiety. Outcomes were assessed using questionnaires for participants (57.3%), patients (36.0%) and observations of real (34.7%) and simulated (30.7%) patient encounters. Outcomes and outcome measures varied widely across studies. Experts agreed that outcomes need to be precisely defined and linked with explicit learning objectives of the training. Furthermore, outcomes should be assessed as broadly as possible on different levels (health care professional, patient and interaction level). CONCLUSIONS: Measuring the effects of training programmes aimed at improving health care professionals' communication skills presents considerable challenges. Outcomes as well as outcome measures differ widely across studies. We recommended to link outcome assessment to specific learning objectives and to assess outcomes as broadly as possible.

Prospective outcome analysis following tenodesis of the long head of the biceps tendon along with locking plate osteosynthesis for proximal humerus fractures.

BACKGROUND: Fractures of the proximal humerus are often associated with lesions of the long head of the biceps (LHB) tendon. This often leads to prolonged shoulder pain. Hence, many surgeons decide to perform a tenodesis of the LHB tendon simultaneous to ORIF. The purpose of this study was to evaluate the postoperative outcome after interlocking plate fixation and biceps tenodesis for treating proximal humerus fractures. METHODS: 56 patients (38 females, 18 male) suffering from proximal humerus fractures who underwent surgery were retrospectively included. 26 of these 56 patients (19% Neer II, 38% Neer III, 43% Neer IV) were treated with simultaneous tenodesis of the LHB tendon when ORIF using interlocking plate fixation was performed. 30 patients (17% Neer II, 40% Neer III, 43% Neer IV) served as control group receiving only interlocking plate fixation. The patients were asked to complete the Munich Shoulder Questionnaire (MSQ) for evaluation of postoperative shoulder function. Results of the Disabilities of the Arm, Shoulder and Hand (DASH) Score and Shoulder Pain and Disability Index (SPADI) were calculated from the MSQ. Patients were clinically evaluated for a positive O'Brien test and Popeye sign. RESULTS: The tenodesis group demonstrated significant superior outcome regarding the MSQ (mean 90.47 points vs. 79.41 points, p = 0.006), DASH Score (mean 4.2 points vs. 16.81 points, p = 0.017) and SPADI (mean 94.59 points vs. 83.56, p = 0.045). Flexion, external rotation and the capability of throwing a soft ball were significantly improved in the tenodesis group compared to the control group. The O'Brien test as indicator for lesions of the LHB was positive in fewer patients of the tenodesis group (2/26, vs. 21/30, p = 0.001). There was no significant difference of a positive Popeye Sign. CONCLUSION: Our results show evidence of an improved shoulder function when a simultaneous tenodesis of the LHB tendon is performed during treatment of proximal humerus fractures using interlocking plate fixation.

Terpene Composition Complexity Controls Secondary Organic Aerosol Yields from Scots Pine Volatile Emissions.

Secondary organic aerosol (SOA) impact climate by scattering and absorbing radiation and contributing to cloud formation. SOA models are based on studies of simplified chemical systems that do not account for the chemical complexity in the atmosphere. This study investigated SOA formation from a mixture of real Scots pine (Pinus sylvestris) emissions including a variety of monoterpenes and sesquiterpenes. SOA generation was characterized from different combinations of volatile compounds as the plant emissions were altered with an herbivore stress treatment. During active herbivore feeding, monoterpene and sesquiterpene emissions increased, but SOA mass yields decreased after accounting for absorption effects. SOA mass yields were controlled by sesquiterpene emissions in healthy plants. In contrast, SOA mass yields from stressed plant emissions were controlled by the specific blend of monoterpene emissions. Conservative estimates using a box model approach showed a 1.5- to 2.3-fold aerosol enhancement when the terpene complexity was taken into account. This enhancement was relative to the commonly used model monoterpene, "α-pinene". These results suggest that simplifying terpene complexity in SOA models could lead to underpredictions in aerosol mass loading.

Environmental conditions regulate the impact of plants on cloud formation.

The terrestrial vegetation emits large amounts of volatile organic compounds (VOC) into the atmosphere, which on oxidation produce secondary organic aerosol (SOA). By acting as cloud condensation nuclei (CCN), SOA influences cloud formation and climate. In a warming climate, changes in environmental factors can cause stresses to plants, inducing changes of the emitted VOC. These can modify particle size and composition. Here we report how induced emissions eventually affect CCN activity of SOA, a key parameter in cloud formation. For boreal forest tree species, insect infestation by aphids causes additional VOC emissions which modifies SOA composition thus hygroscopicity and CCN activity. Moderate heat increases the total amount of constitutive VOC, which has a minor effect on hygroscopicity, but affects CCN activity by increasing the particles' size. The coupling of plant stresses, VOC composition and CCN activity points to an important impact of induced plant emissions on cloud formation and climate.

Reduction and stabilization of radial neck fractures by intramedullary pinning: a technique not only for children.

BACKGROUND: Isolated radial neck fractures occur only in rare cases. The majority of cases are non-displaced or minimally displaced and can be treated conservatively. Conservative treatment, however, might result in secondary displacement and/or malunion. On the other hand, open reduction and internal fixation (ORIF) as standard surgical approach in adults is associated with non-union, implant-related complications and reduced range of motion. For isolated radial neck fractures with an intact radial head, the procedure of centromedullary pinning--as widely used in the treatment of paediatric radial neck fractures--might be an alternative operative technique in adults as well. The purpose of this retrospective case series therefore was to evaluate the functional outcome of radial neck fractures treated by intramedullary pinning. METHODS: Between 02/2009 and 12/2014, a total of eight patients with isolated radial neck fractures (Mason type-III; Judet Type II and III) were treated with centromedullary pinning using titanium elastic nails (TEN). The mean age of the patients was 39 years (range 23-90 years) with a mean interval from injury to surgery of 2.9 days (range 1-7 days). Subjective and objective criteria included patient's satisfaction, pain rating on a visual analogue scale (VAS) and active range of motion (ROM) compared to the contralateral armside. Functional scoring included the Morrey Elbow Score (MEPS), the QuickDASH and the Elbow Self Assessment Score (ESAS). Furthermore, follow-up radiographs were evaluated. RESULTS: Seven of the eight patients were available for follow-up after a mean of 36 months (range 6-64 months). Patients' satisfaction was rated very good in four cases, good in two cases and sufficient in one case. An unrestricted active ROM compared to the contralateral side for extension-flexion arc and for pronation-supination-arc with full strength was rated in all cases. The Elbow Self Assessment Score was 98.52 ± 1.95 (range 96-100), the calculated Mayo elbow performance score was 95.71 ± 7.32 (range 85-100) and the QuickDASH score was 6.81 ± 10.42 (range 0-27). There were no complications as infection, non-union, heterotopic ossifications or secondary loss of reduction of the radial head. Only one patient complained about pain resulting from an affection of the superficial radial nerve. CONCLUSION: In the present cohort, good to excellent results without relevant complications were seen. The technique of intramedullary pinning as described in the treatment of isolated radial neck fractures in children represents a suitable and reliable method in adults as well. In selected cases, this technique can be recommended as an alternative, minimal-invasive approach to the radial head plate osteosynthesis.

Feral Swine Leptospira Seroprevalence Survey in Hawaii, USA, 2007-2009.

Leptospirosis is considered the most widespread of zoonotic diseases. It was a notifiable disease in the United States until 1995 and was reinstated to the list of nationally notifiable diseases in 2014. During the time of national surveillance, Hawaii consistently led the nation in reported annual incidence rates. Leptospirosis has remained a reportable disease in Hawaii. Significant changes have been documented since the early 1970s in the predominant serogroup infecting humans in Hawaii: infections due to Icterohaemorrhagiae have declined while infections due to Australis have increased. A recent study from Hawaii demonstrated that Australis was an uncommon infecting serogroup for small mammal hosts. Swine have not been previously studied in Hawaii but are well-recognized maintenance hosts for leptospires belonging to the Australis serogroup. This study was undertaken to assess the prevalence of Leptospira antibody in feral swine in Hawaii. From January 2007 through December 2009, blood samples were collected opportunistically from feral swine. Using the microscopic agglutination test, we found antibody titres ≥1 : 100 to leptospires in 272 (33.8%) of 804 feral swine. The most frequently reacting serovars to the swine sera were Icterohaemorrhagiae (Icterohaemorrhagiae serogroup) (41.5%) and Bratislava (Australis serogroup) (33.8%). The high seroprevalence and presumptively infecting serovars suggest a link between swine and human infection.

[Application of the International Classification of Functioning, Disability and Health (ICF) in Psychosomatic Rehabilitation and Addiction Rehabilitation in Germany - The Current State]. / Anwendung der Internationalen Klassifikation der Funktionsfähigkeit, Behinderung und Gesundheit (ICF) in der psychosomatischen Rehabilitation und Suchtrehabilitation in Deutschland - eine Bestandsaufnahme.

OBJECTIVE: The aim of this study was to gather information on the current state of the implementation of the International Classification of Functioning, Disability and Health (ICF) in psychosomatic and addiction rehabilitation. METHODS: In the summer of 2013, rehabilitation clinics in Germany were surveyed online on their ICF utilization. The questionnaire covered scope and purpose of ICF use, application of ICF core sets and assessments as well as barriers to the use of ICF. RESULTS: Of 359 clinics invited, 104 (30%) participated in the survey. Of those surveyed, 60 (61.9%) claimed to have taken measures to implement the ICF in their clinic; only 37 (38.5%), however, reported using the ICF in their daily work. The main barriers identified were complexity of the ICF, time management issues and training deficits. CONCLUSION: Approaches to ICF use are not uniform. There is a need for training programs, and guidance from health care insurance providers could help towards uniform implementation of the ICF.

Cardiomyopathy in Duchenne Muscular Dystrophy: Current Value of Clinical, Electrophysiological and Imaging Findings in Children and Teenagers.

BACKGROUND: Progressive cardiomyopathy (CMP) is one main cause of death in DMD. This cross-sectional assessment of different cardiac diagnostic procedures focusses on preterm diagnosis of cardiac dysfunction. PATIENTS: 39 male DMD patients aged 6-20 years were included. 6 patients were still ambulatory, 21 patients received corticosteroid therapy. METHODS: All patients were investigated by ECG, Holter ECG and heart rate variability (HRV), B-type natriuretic peptide (BNP), echocardiography (TTE), tissue Doppler Imaging (TD) and magnetic resonance imaging (MRI) with Late Gadolinium enhancement (LE) and segmental wall motion analysis (WMA). RESULTS: 56% of the patients showed repolarization abnormalities and 76% altered HRV. Subnormal ventricular function was found in 25% by TTE and in 34% by MRI. TD differed from normal controls only in the apical septum. In MRI 89% of the patients showed different distribution and intensity of LE and WM restriction. The extent of LE was less in patients after steroid treatment (p<0.05). DISCUSSION: MRI with segmental LE- and WM-analysis seems to be superior to TTE and TD in exploring regional distribution and severity of damage of the myocardium. ECG and HRV abnormalities are common in DMD-patients but not tightly predictive for segmental and global left ventricular dysfunction. Targeted treatment of CMP in DMD needs prospective evaluation. CONCLUSION: A timely cardiac MRI is the most sensitive investigation for the identification of early myocardial changes in DMD which is a prerequisite for early interventions and therapeutic strategies.

[ICF-based Assessments to Evaluate Need and Success in the Treatment of Patients With Mental Disorders - A Systematic Review]. / ICF-basierte Messinstrumente zur Bedarfserfassung und Evaluation in der Behandlung von Patienten mit psychischen Störungen - ein systematisches Review.

AIMS: The aim of the study is to provide a systematic overview of assessment instruments that refer conceptually to the International Classification of Functioning, Disability, and Health (ICF) and can be used in the context of mental disorders. METHODS: We conducted a systematic literature search in the scientific databases (EMBASE, Medline, PsycInfo, PSYNDEX) and screened relevant conference proceedings since 2001. From abstracts fitting our inclusion criteria we reviewed full texts. Identified assessments were compared regarding their operationalization of the ICF. RESULTS: Out of 440 identified abstracts we selected 8 assessment instruments for interviewer-, proxy- or self-assessment. Two were generic and six disease-specific scales. Differences pertain to the extent as well as coverage and operationalization of the ICF. CONCLUSION: Existing instruments differ in psychometric properties and operationalization of the ICF. This review might help clinicians to select ICF-based assessments.

[Development, factor-analytical control and psychometric evaluation of a questionnaire on specialty choices among medical students]. / Entwicklung, faktorenanalytische Überprüfung und psychometrische Evaluierung eines Fragebogens zur Gebietswahl von Medizinstudierenden.

AIM OF THE STUDY: A questionnaire was developed and validated which assesses factors influencing career choices of medical students and their perception of possibilities in general practice. METHODS: The first questionnaire version, which was developed based on a systematic literature review, was checked for comprehensibility and redundancy using concurrent think aloud. The revised version was filled out by a pilot sample of medical students and the factor structure was assessed using principal component analysis (PCA). The final version was filled out in an online survey by medical students of all 5 Medical Faculties in the federal state of Baden-Wuerttemberg. The factor structure was validated with a confirmatory factor analysis (CFA). Reliability was assessed as internal consistency using Cronbach's α. RESULTS: The questionnaire comprises 2 parts: ratings of (A) the individual importance and of (B) the possibilities in general practice on 5-point scales. The first version comprising 118 items was shortened to 63 items after conducting interviews using concurrent think aloud. A further 3 items giving no information were removed after piloting the questionnaire on 179 students. The 27 items of part A were structured in 7 factors (PCA): image, personal ambition, patient orientation, work-life balance, future perspectives, job-related ambition, and variety in job. This structure had a critical fit in the CFA applied to the final version filled out by 1 299 students. Internal consistency of the factors was satisfactory to very good (Cronbach's α=0.55-0.81). CONCLUSION: The questionnaire showed good psychometric properties. Further, not assessed factors influence career choice resulting in unexplained variance in our dataset and the critical fit of the model.

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

CHARGE (coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and deafness) syndrome is a congenital malformation syndrome caused by mutations in the CHD7 gene in approximately 2/3 of cases. In the vast majority of cases, CHARGE syndrome is sporadic. There are only a few reports of parent-to-child transmission and somatic or gonadal mosaicism. To determine the parental origin of CHD7 mutations in sporadic CHARGE syndrome, we screened 30 families for informative exonic or intronic polymorphisms located near the detected CHD7 mutation. An informative polymorphism could be identified in 13 out of 30 families. Linkage analysis was performed between the CHD7 mutation and the polymorphism in the child. In 12 out of 13 families, the mutation affected the paternal allele (92.3%). In our cohort, the mean paternal age at birth was 32.92 years. Comparing the age of fathers of an affected CHARGE patient with the paternal age of the German population in general, we could not observe any paternal age effect. Taken together, we show in this study that de novo CHD7 mutations occur predominantly in the male germ line.