A new spectrum of neonatal urethral pathologies in the era of early vesicoamniotic shunting?

PURPOSE: Intrauterine vesicoamniotic shunting (VAS) was shown to affect survival of male fetuses with megacystis in suspected lower urinary tract obstruction (LUTO). Data on postnatal management are largely lacking. We aim to describe the pathologies diagnosed in children born after vesicoamniotic shunt placement in early pregnancy for megacystis. METHODS: All newborns with previous intrauterine VAS treated in our institution were analyzed retrospectively. We evaluated the clinical spectrum of urethral pathologies. We also compared patients who received a shunt before the 17th gestational week with those who received it later. RESULTS: Between 2014 and 2023, 26 patients (all male) with a history of VAS for suspected LUTO were treated in our institution postnatally. Five fetuses with dislocated shunts underwent re-implantation in utero. Overall, premature birth before the 38th week of gestation was observed in 14 patients. Seven patients received a Harrison® shunt whereas 19 received a Somatex® shunt. Twelve patients required surgical shunt removal under general anesthesia due to shunt migration/embedding. Posterior urethral valves were found in 10/26 patients, 10/26 patients showed a urethral hypoplasia [Fig. 1] and two patients had urethral duplications. In two patients, we identified a prune belly syndrome. One patient had posterior and anterior urethral valves. One patient had a high grade bilateral vesicoureteral reflux without LUTO. The 11 patients shunted early (before 17GW) showed a trend towards a higher proportion of urethral hypoplasia in the early shunt group (54% vs. 26%) without statistical significance. CONCLUSION: In our observation, patients treated with VAS had a noticeable high proportion of complex urethral pathologies such as urethral hypoplasia. These data should be taken into consideration for prenatal counselling of parents and planning of postnatal management.

Features and Needs of Autistic Older Adults: A Delphi Study of Clinical Experiences.

OBJECTIVES: In geriatric psychiatry Autism Spectrum Disorders (ASD) are increasingly recognized. This study explores what clinicians know about diagnostic and/or therapeutic aspects of autistic older adults and how aging plays a role in the course of ASD. METHODS: A Delphi study outlines the point of view of 11 clinical experts in the Netherlands and Belgium (Flanders). RESULTS: Regarding diagnostics, age-specific aspects need to be considered. Age-related characteristics (cognitive differences, life events, co-occurring conditions) influence detecting autistic features in older adults. Regarding treatment, counseling methods need to be adapted. Psychoeducation, family therapy, couples therapy, behavioral counseling and psychopharmaca can be helpful in meeting the needs of autistic older adults. There was no consensus on the effects of aging on autistic older adults. CONCLUSIONS: Diagnosis and treatment of ASD need adaptation for autistic older adults. Further research is needed on the validation of measurement tools, recorded treatment, therapy, psychoeducation, and the effects of aging among people on the autism spectrum. CLINICAL IMPLICATIONS: Available knowledge helps clinicians to detect ASD in older adults and adapt to the specific features and needs of autistic older adults. The effects of aging on the course of ASD are unclear yet.

Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.

PURPOSE: The aim of this study was to examine the ophthalmological characteristics and genotypes of patients with congenital retinal pathologies, who display a bull's-eye maculopathy in the fundus, along with a negative scotopic electroretinogram. METHODS: We analysed the results of five patients showing both a bull's-eye maculopathy, as well as a negative scotopic ERG evoked by a bright flash. Their median age was 39 years (range 11-63 years): three males and two females. All underwent a comprehensive examination with determination of distant visual acuity (ETDRS) and recording of the full-field ERG (scotopic and photopic). Fundus, OCT, and FAF images were obtained, the kinetic visual field was determined, and colour vision (D-15) was tested in most patients. Targeted gene panel sequencing was performed on peripheral blood. RESULTS: One patient carried a homozygous ABCA4 mutation and an additional heterozygous variant in CRX. Two of the five patients were shown to have a heterozygous mutation in the CRX gene, one of whom had an additional heterozygous ABCA4 mutation. Two patients had the common heterozygous mutation c.2413G>A;p.Arg838His in GUCY2D. In all of the patients, there was a reduction in the amplitude of the b-wave with a regular a-wave amplitude in the scotopic bright-flash ERG. CONCLUSIONS: The five patients with bull's-eye maculopathy along with a negative ERG had differing genotypes. Mutations were found in the CRX gene (2 patients), the ABCA4 gene (1 patient), and the GUCY2D gene (2 patients).

A case of X-linked retinoschisis with atypical fundus appearance.

PURPOSE: Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa. METHODS: This report is an observational case report. The detailed ophthalmological examinations included visual field determination, multimodal imaging and electrophysiological recordings. Targeted next-generation sequencing of a retinal disease gene panel was performed. RESULTS: The 55-year-old male, highly hyperopic patient, presented with a best-corrected Snellen visual acuity of 20/100 in the right eye and 20/400 in the left eye. In the kinetic visual field, there was a superior scotoma, as well as a ring scotoma in the inferior hemisphere in the right eye and a concentric visual field constriction to 10° in the left eye. Funduscopy revealed marked pigmentary changes (i.e. bone spicules) in the mid-periphery bilaterally and symmetrically, as well as two small intra-retinal haemorrhages in the left eye. Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic-genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified. CONCLUSION: We present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa.

What can patients do to facilitate shared decision making? A qualitative study of patients with depression or schizophrenia and psychiatrists.

PURPOSE: Patient involvement in decision making is endorsed by patients and professionals. While research has recently been conducted on how professionals can promote shared decision making (SDM), little is known about how patients can also facilitate SDM. METHODS: Seven focus groups were conducted: 3 with psychiatrists and 4 with patients with schizophrenia or depression. The focus groups were transcribed and independently coded line by line by 2 researchers. Data were analyzed using content analysis. RESULTS: Seven themes related to patient attitudes and behaviors were identified: honesty and openness with one's psychiatrist and oneself, trust in one's psychiatrist and patience with the treatment, respect and politeness, informing the psychiatrist and giving feedback, engagement/active participation during the consultation, gathering information/preparing for the consultation and implementing decisions. Barriers (e.g., avolition, lack of decisional capacity, powerlessness during involuntary treatment) and facilitators of active patient behavior were also identified. CONCLUSIONS: There are various ways in which patients can facilitate SDM/play a more active role in decision making, with patients emphasizing being open and honest and psychiatrists emphasizing being active in the consultation. Interventions to increase active patient behavior may enhance SDM in mental health care.

Dynamic intraligamentary stabilization: novel technique for preserving the ruptured ACL.

PURPOSE: Replacement of the torn anterior cruciate ligament (ACL) with a transplant is today`s gold standard. A new technique for preserving and healing the torn ACL is presented. HYPOTHESIS: a dynamic intraligamentary stabilization (DIS) that provides continuous postinjury stability of the knee and ACL in combination with biological improvement of the healing environment [leucocyte- and platelet-rich fibrin (L-PRF) and microfracturing] should enable biomechanically stable ACL self-healing. METHODS: Ten sportive patients were treated by DIS employing an internal stabilizer to keep the unstable knee in a posterior translation, combined with microfracturing and platelet-rich fibrin induction at the rupture site to promote self-healing. Postoperative clinical [Tegner, Lysholm, International Knee Documentation Committee (IKDC), visual analogue scale patient satisfaction score] and radiological evaluation, as well as assessment of knee laxity was performed at 6 weeks, 3, 6, 12, and 24 months. RESULTS: One patient had a re-rupture 5 months postoperative and was hence excluded from further follow-ups. The other nine patients presented the following outcomes at 24 months: median Lysholm score of 100; IKDC score of 98 (97-100); median Tegner score of 6 (range 9-5); anterior translation difference of 1.4 mm (-1 to 3 mm); median satisfaction score of 9.8 (9-10). MRI showed scarring and continuity of the ligament in all patients. CONCLUSIONS: DIS combined with microfracturing and L-PRF resulted in stable clinical and radiological healing of the torn ACL in all but one patient of this first series. They attained normal knee scores, reported excellent satisfaction and could return to their previous levels of sporting activity. LEVEL OF EVIDENCE: Case series with no comparison group, Level IV.

Osteotomy of the greater trochanter: effect on gluteus medius function.

PURPOSE: Advancement of the greater trochanter alters the function of the gluteus medius muscle. However, with the exception of clinical studies and biomechanical lever arm studies, no publications that analyze the consequences of advancement of the greater trochanter on the muscle function exist. The aim of the study was to analyze the mechanical changes of gluteus medius after osteotomy of the greater trochanter in a lab setting. METHODS: An anatomical study of origin and insertion of the gluteus medius was carried out on four hips. Based on the dissections, a string model was developed dividing the muscle into five sectors. Changes in muscle fiber length were measured for every 10° of flexion, internal and external rotation and abduction with the trochanter in anatomic, proximalized and distalized positions. RESULTS: Distalization of the trochanter leads to an imbalance of muscle action, moving the isometric sector of the muscle anteriorly with more muscle sectors being active during flexion and less during extension. Stretching of the muscle increases passive forces but decreases the force generation capacity of the muscle and at the same time increased muscle fiber excursion may require more energy consumption, which may explain earlier fatigue of the abductor musculature after distalization of the trochanter. For abduction, distalization of the muscle attachment leads to a change in contraction pattern from isometric to isotonic. Optimal balancing and excursion of the muscle is when the tip of the greater trochanter is at level with the hip rotation center. CONCLUSIONS: In hips with high riding trochanter, the optimal position is at the level of the center of hip rotation. Excessive distalization should be avoided. As the conclusions and considerations are based on a lab setting, transfer to clinical practice may not necessarily apply.

Interference of attention-deficit hyperactivity disorder in an older adult with a severe personality disorder and dermatillomania.

This case of a 65-year-old male with dermatillomania, diffuse anxiety symptoms, and avoidant personality disorder (PD) illustrates the interference of attention-deficit hyperactivity disorder (ADHD) in the diagnostic process and during schema-focused therapy. In conclusion, ADHD in older adults and interference with PD is a subject of clinical importance and worth further investigation.

Sonication: a valuable technique for diagnosis and treatment of periprosthetic joint infections.

BACKGROUND: Periprosthetic joint infection (PJI) is the most severe complication, following joint arthroplasty. Identification of the causal microbial factor is of paramount importance for the successful treatment. PURPOSE: The aim of this study is to compare the sonication fluid cultures derived from joint prosthetic components with the respective periprosthetic tissue cultures. METHODS: Explanted prosthesis components for suspected infection were placed into a tank containing sterile Ringer's solution and sonicated for 1 minute at 40 kHz. Sonication fluid cultures were examined for 10 days, and the number and identity of any colony morphology was recorded. In addition, periprosthetic tissue specimens (>5) were collected and cultured according to standard practice. The duration of antimicrobial interruption interval before culture sampling was recorded. RESULTS: Thirty-four patients composed the study group. Sonication fluid cultures were positive in 24 patients (70.5%). Sixteen of thirty four periprosthetic tissue cultures (47.1%) were considered positive, all revealing the same microbial species with the respective sonication fluid cultures: 3 tissue samples showed polymicrobial infection. All tissue cultures were also found positive by the sonication fluid culture. CONCLUSIONS: Sonication fluid cultures represent a cheap, easy, accurate, and sensitive diagnostic modality demonstrating increased sensitivity compared to periprosthetic tissue cultures (70.5 versus 47.1%).

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM) or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder characterized by photophobia, reduced visual acuity, nystagmus and the complete inability to discriminate between colours. Electroretinographic recordings show that in RM, rod photoreceptor function is normal, whereas cone photoreceptor responses are absent. The locus for RM has been mapped to chromosome 2q11 (ref. 2), however the gene underlying RM has not yet been identified. Recently, a suitable candidate gene, CNGA3, encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel, a key component of the phototransduction pathway, has been cloned and assigned to human chromosome 2q11 (refs 3,4). We report the identification of missense mutations in CNGA3 in five families with RM. Homozygous mutations are present in two families, whereas the remaining families show compound heterozygous mutations. In all cases, the segregation pattern of the mutations is consistent with the autosomal recessive inheritance of the disease and all mutations affect amino acids that are highly conserved among cyclic nucleotide gated channels (CNG) in various species. This is the first report of a colour vision disorder caused by defects other than mutations in the cone pigment genes, and implies at least in this instance a common genetic basis for phototransduction in the three different cone photoreceptors of the human retina.

[Genetic diagnostic testing in inherited retinal dystrophies]. / Genetische diagnostik bei erblichen netzhautdystrophien.

Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy, achromatopsia, congenital stationary nightblindness) and syndromal forms (i.e., Usher syndrome, Bardet-Biedl syndrome) can be differentiated. To date almost 180 genes and thousands of distinct mutations have been identified that are responsible for the different forms of these blinding illnesses. Until recently, there was no adequate diagnostic genetic testing available. With the development of the next generation sequencing technologies, a comprehensive genetic screening analysis for all known genes for inherited retinal dystrophies has been established at reasonable costs and in appropriate turn-around times. Depending on the primary clinical diagnosis and the presumed mode of inheritance, different diagnostic panels can be chosen for genetic testing. Statistics show that in 55-80 % of the cases the genetic defect of the inherited retinal dystrophy can be identified with this approach, depending on the initial clinical diagnosis. The aim of any genetic diagnostics is to define the genetic cause of a given illness within the affected patient and family and thereby i) confirm the clinical diagnosis, ii) provide targeted genetic testing in family members, iii) enable therapeutic intervention, iv) give a prognosis on disease course and progression and v) in the long run provide the basis for novel therapeutic approaches and personalised medicine.

Postnatal surgical treatment and complications following intrauterine vesicoamniotic shunting with the SOMATEX® intrauterine shunt. A single center experience.

INTRODUCTION: Intrauterine vesicoamniotic shunting (VAS) using a Somatex® shunt was shown to significantly affect survival of male fetuses with megacystis in suspected lower urinary tract obstruction (LUTO) [Figure 1]. Data on postnatal surgical management and complications are largely lacking. OBJECTIVE: To describe the postnatal management of patients with prenatal VAS for megacystitis in suspected severe LUTO. STUDY DESIGN: All male newborns with previous intrauterine VAS using a Somatex® shunt treated in our institution were retrospectively analyzed. We evaluated the spectrum of urethral pathologies and postnatal surgical management, especially focusing on shunt removal. RESULTS: Between 2016 and 2022, 17 patients (all male) were treated postnatally in our institution after VAS for suspected severe LUTO. Five fetuses with dislocated shunts underwent re-implantation in utero. Overall, premature birth before the 38th week of gestation was observed in eight patients (8/17). Seven shunts could be removed without further anesthesia as a bedside procedure. Ten patients required surgical shunt removal under general anesthesia due to migration (59%). Laparoscopic shunt extraction was performed in 8/10 cases. Most frequently, dislocated shunts were located incorporated in the detrusor in eight cases and the removal required a bladder suture in 2/8 patients. In one case, the shunt was removed from the abdominal wall and in one case from the intestine wall [Figure 2]. Posterior urethral valves were found in 8/17 patients, 6/17 patients showed a urethral atresia and one patient had urethral duplication. In two patients, we identified a high grade bilateral vesicoureteral reflux without LUTO. CONCLUSION: In our observation, more than half of the newborns with megacystis in suspected LUTO require a shunt removal surgery after early VAS using a Somatex® shunt. Urethral atresia may be found more frequently in these patients. These data should be taken into consideration for prenatal counselling of parents and planning of postnatal management.

Clinical use of a new frameless optical neuronavigation system for brain biopsies: 10 cases (2013-2020).

OBJECTIVES: The aim of the retrospective study was to describe the brain biopsy procedure using a new frameless optical neuronavigation system and to report diagnostic yield and complications associated with the procedure. MATERIALS AND METHODS: The medical records for all dogs with forebrain lesions that underwent brain biopsy with a frameless optical neuronavigation system in a single referral hospital between 2013 and 2020 were retrospectively analysed. Following data were collected: signalment, neurological signs, diagnostic findings, number of brain biopsy samples, sampled region, complications, duration of hospitalisation, whether the samples were diagnostic and histopathological diagnoses. The device consists of a computer workstation with navigation software, an infrared camera, patient tracker and reflective instruments. The biopsy needle was equipped with reflective spheres, so the surgeon could see the position of the needle during sampling the intracranial lesion free handed through a mini-burr hole. RESULTS: Ten dogs were included. Absolute diagnostic yield based on specific histopathological diagnosis was 73.9%. Three dogs had immune-mediated necrotizing encephalitis, two dogs showed a necrotizing leukoencephalitis and two dogs a meningoencephalitis of unknown origin. In two dogs, the brain specimen showed unspecific changes. In one dog, the samples were non-diagnostic. Seven dogs showed no neurological deterioration, one dog mild temporary ataxia and two dogs died within 36 hours post brain biopsy. CLINICAL SIGNIFICANCE: In these 10 dogs, the frameless optical neuronavigation system employed was useful to gain diagnostic brain biopsy samples. Considering the mortality rate observed, further studies are needed to confirm the safety of this procedure and prove its actual clinical effectiveness.

GPR98 mutations cause Usher syndrome type 2 in males.

Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98 mutations cause a more severe, and eventually lethal, phenotype in males. We describe for the first time two male patients with USH2 with novel GPR98 mutations. Clinical characterization of a male patient and his affected sister revealed a typical USH2 phenotype in both. GPR98 may have been excluded from systematic investigation in previous studies, and the proportion of patients with USH2C probably underestimated. GPR98 should be considered in patients with USH2 of both sexes.

Advanced optimum contribution selection as a tool to improve regional cattle breeds: a feasibility study for Vorderwald cattle.

In the middle of the 20th century, increasing inbreeding rates were identified as a threat to livestock breeding. Consequences include reduced fertility, fitness and phenotypic expression of lethal alleles. An important step in mitigating this inbreeding was the introduction of optimum contribution selection (OCS). OCS facilitates the simultaneous management of genetic gain and inbreeding rates. However, using a standard OCS methodology for regional breeds with historical introgression for upgrading reasons could lead to reinforced selection on introgressed genetic material since those alleles improve the rate of genetic gain and reduce the average kinship in the population. Consequently, regional breeds may become genetically extinct if a standard OCS approach is used. Thus, the advanced OCS (aOCS) approach takes introgressed genetic material into account. The major goals of this study were to (i) gather key information on the feasibility of aOCS under practical conditions of the actual breeding scheme of Vorderwald cattle, (ii) identify superior strategies for implementing the actual scheme and (iii) examine whether historical breeding decisions to increase genetic gain by introgression from commercial breeds could have been avoided by using aOCS. Stochastic simulations were designed in this study to create populations from the historical gene pool by using aOCS. Simultaneously, all practical constraints of a breeding scheme were met. Thus, the simulated populations were comparable with real data. The annual genetic gain was higher in reality (1.56) than in the simulation scenarios (1.12-1.40). The introgressed genetic material increased to 61.3% in reality but was conserved at a final value of 15.3% (±0.78) across simulations. The classical rate of inbreeding and rate of native inbreeding were constrained to 0.092% on an annual basis. This value is equal to an effective population size of 100. The observed values for rates of inbreeding were 0.082-0.087% and 0.087-0.088% for classical and native kinship, respectively. The corresponding figures in reality were 0.067% and 0.184%, respectively. This study suggests that aOCS is feasible for Vorderwald cattle. Strategies for implementation are identified. Finally, we conclude that historical breeding decisions could have been avoided by using aOCS. The genetic gain would have been reduced by at least 12.2%, but the introgressed genetic material, genetic diversity and native genetic diversity would have been more desirable for a breed under conservation.

Implementation of advanced Optimum Contribution Selection in small-scale breeding schemes: prospects and challenges in Vorderwald cattle.

Vorderwald cattle are a regional cattle breed from the Black Forest in south western Germany. In recent decades, commercial breeds have been introgressed to upgrade the breed in performance traits. On one hand, native genetic diversity of the breed should be conserved. On the other hand, moderate rates of genetic gain are needed to satisfy breeders to keep the breed. These goals are antagonistic, since the native proportion of the gene pool is negatively correlated to performance traits and the carriers of introgressed alleles are less related to the population. Thus, a standard Optimum Contribution Selection (OCS) approach would lead to reinforced selection on migrant contributions (MC). Our objective was the development of strategies for practical implementation of an OCS approach to manage the MC and native genetic diversity of regional breeds. Additionally, we examined the organisational efforts and the financial impacts on the breeding scheme of Vorderwald cattle. We chose the advanced Optimum Contribution Selection (aOCS) to manage the breed in stochastic simulations based on real pedigree data. In addition to standard OCS approaches, aOCS facilitates the management of the MC and the rate of inbreeding at native alleles. We examined two aOCS strategies. Both strategies maximised genetic gain, while strategy (I) conserved the MC in the breeding population and strategy (II) reduced the MC at a predefined annual rate. These two approaches were combined with one of three flows of replacement of sires (FoR strategies). Additionally, we compared breeding costs to clarify about the financial impact of implementing aOCS in a young sire breeding scheme. According to our results, conserving the MC in the population led to significantly (P < 0.01) higher genetic gain (1.16 ± 0.13 points/year) than reducing the MC (0.88 ± 0.10 points/year). In simulation scenarios that conserved the MC, the final value of MC was 57.6% ± 0.004, while being constraint to 58.2%. However, reducing the MC is only partially feasible based on pedigree data. Additionally, this study proves that the classical rate of inbreeding can be managed by constraining only the rate of inbreeding at native alleles within the aOCS approach. The financial comparison of the different breeding schemes proved the feasibility of implementing aOCS in Vorderwald cattle. Implementing the modelled breeding scheme would reduce costs by 1.1% compared with the actual scheme. Reduced costs were underpinned by additional genetic gain in superior simulation scenarios compared to expected genetic gain in reality (+4.85%).

CYLD mutations in familial skin appendage tumours.

BACKGROUND: Germ-line mutations in CYLD are found in patients with familial skin appendage tumours. The protein product functions as a deubiquitinase enzyme, which negatively regulates NF-kappaB and c-Jun N-terminal kinase signalling. Brooke-Spiegler syndrome (BSS) is characterised by cylindromas, trichoepitheliomas and spiradenomas, whereas in familial cylindromatosis (FC) patients present with cylindromas and in multiple familial trichoepitheliomas (MFT) with trichoepitheliomas as the only skin tumour type. Although described as distinct entities, recent studies suggest that they are within the spectrum of a single entity. OBJECTIVE: To investigate the mutation spectrum of CYLD and possible genotype-phenotype correlations. METHODS: 25 families including 13 BSS, 3 FC, and 9 MFT families were examined and evaluated for mutations in the CYLD gene. RESULTS: In total, 18 mutations in CYLD, including 6 novel mutations, were identified in 25 probands (72%). The mutation frequencies among distinct phenotypes were 85% for BSS, 100% for FC, and 44% for MFT. The majority of the mutations were insertions, deletions or nonsense mutations leading to formation of truncated proteins. All mutations were located between exons 9 to 20, encoding the NEMO binding site and the catalytic domain. Genotype-phenotype analysis failed to reveal a correlation between the types of mutations and their location within the gene and the patients' phenotypes and disease severity. CONCLUSIONS: This study provides further evidence on the role of CYLD in the pathogenesis of skin appendage tumours characterised by cylindromas, trichoepitheliomas and/or spiradenomas, but the molecular mechanisms of CYLD in skin tumorigenesis and the reasons for phenotypic variability remain to be explored.

[Nausea and vomiting as evolutionary mechanisms of the complex adaptation reaction to pregnancy]. / Ubelkeit und Erbrechen als evolutionäre Mechanismen der vielschichtigen Anpassungsreaktion an die Schwangerschaft.

INTRODUCTION: Nausea and vomiting during pregnancy (NVP) constitute a frequent and often highly unpleasant syndrome during the sensitive period of early pregnancy, which has been intensively investigated. However, many questions remain unanswered, particularly the counterintuitive association with a better pregnancy outcome. Under these circumstances our functional concept to interpret NVP as an evolutionary mechanism of complex adaptation to early pregnancy seems promising. METHOD: In this cross-cultural study data were collected from 565 mothers, who had given birth recently in South Africa, Guatemala and Germany, using a standardised questionnaire interview. RESULTS: There was a cross-culturally similar prevalence and clinical presentation of NVP, showing a high degree of subjective suffering. We found evidence supporting a multifactoral aetiology of biological, psychological and sociological factors. Likewise, NVP seems to have multiple effects, concerning nutrition, behaviour, perception, psychology and social support. DISCUSSION AND CONCLUSION: Our new and previously existing data support the idea that NVP has been selected for by evolution, as a functional adaptation to vulnerable early pregnancy, which benefits mother and child. This assumption is supported by the correlation of NVP with a better foetal prognosis, the cross-culturally high prevalence and a favorable relation of low biological costs versus high effects. The benefit of NVP could be realised by nutritional change, increased social support, more passive and careful behaviour, earlier recognition of pregnancy and a positive influence on foetal development. To understand the functionality of NVP, one needs to consider the complex somato-psychoemotional interplay in the context of an environment of evolutionary adaptedness (EEA).

[Diagnosis of autism spectrum disorders in older adults]. / Diagnostiek van autismespectrumstoornissen bij ouderen.

BACKGROUND: Older adults are hardly ever diagnosed as having autism spectrum disorders (asd). Only a few case-studies have been published and there has been no quantitative research into these developmental disorders in the 60-plus age group. Diagnosis is made more complicated because it is difficult to obtain a developmental history in older adults. It is possible that behavioural aspects are different in later life because of the biopsychosocial factors that are linked to ageing. Further scientific research is needed into differential diagnoses in older adults.