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PubMed2005

The assessment of need for mental health services.

BACKGROUND: The field of psychiatric epidemiology has yielded several large and important studies of the prevalence of psychiatric disorders. These surveys have been enhanced by the inclusion of methodologies that reflect the needs for care of the population in question. Clinical studies of psychiatric disorders and unmet needs have focussed on identifying needs and correlating them with service evaluation and satisfaction measures. The association between prevalence, service use and unmet need requires review in order to establish whether there are trends and consistent findings. METHOD: Peer-reviewed studies involving the assessment of need up to the present were included. These were of two broad groups: population-based studies and clinical studies. Studies based on outcome measures, review articles, and child psychiatry, old age, and intellectual disability samples were excluded. We conducted a search of MEDLINE and PSYCHINFO using the key words, "mental health needs","assessment of need", and "needs assessment". In addition, we hand-searched key journals and sought personal communication with researchers in the field. RESULTS: A total of 14 population studies and 19 clinical studies were retrieved. The percentage of the general population who reported at least one need for care ranged from 9.5% to 13.8%. The numbers of needs in psychiatric patients ranged from 3.3 to 8.6. Correlates of unmet need include: unemployment, single status, low quality of life and high disability scores, and the presence of certain psychiatric diagnoses, such as affective psychosis and personality disorders. Higher rates of met need and service satisfaction are correlated with a longer duration of service contact. CONCLUSION: The assessment of need to date has been established either by service use data to make inferences about unmet need, by asking limited guided questions about needs, or by using established needs assessment instruments. The high prevalence of psychiatric disorders and the weak correlation between disorder and unmet need require a combined approach towards service development.

Cross-Cultural Comparison↗
PubMed1998

Accessibility of government-run sheltered workshops to people with psychiatric histories.

Government-run sheltered workshops in the Netherlands are not as easily accessible to people with psychiatric histories as they are to other groups, such as those with physical and intellectual disabilities. This was found in a large-scale nationwide study in 21 such workshops, commissioned by the Dutch Ministry of Social Affairs and Employment. The workshops varied in their degree of accessibility. The more accessible ones placed stronger emphasis on social objectives and had shorter waiting periods and more lenient admission policies.

Persons with Disabilities↗
PubMed2026

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

BACKGROUND: Although pathogenic variants in MECP2 are classically associated with Rett syndrome (RTT), increasing evidence suggests that they can underlie a broader spectrum of neurological phenotypes. Clinical manifestations may vary according to sex, variant type, residual protein function, and pattern of X-chromosome inactivation. METHODS: We describe five unrelated individuals carrying pathogenic MECP2 variants identified through multiplex ligation-dependent probe amplification, chromosomal microarray analysis, and next-generation sequencing. Clinical, neuroradiological, neurophysiological, and molecular findings were retrospectively reviewed. RESULTS: Two unrelated girls carrying large de novo Xq28 deletions encompassing the entire MECP2 locus presented with mild neurodevelopmental impairment and epilepsy, but no developmental regression or classic RTT features. Both girls showed borderline cognitive functioning and normal brain MRI. A 9-year-old boy carrying a maternally inherited MECP2 frameshift variant presented with intellectual disability, autism spectrum disorder, and focal epilepsy, whereas carriers in his family exhibited milder neuropsychiatric manifestations. A 44-year-old man carrying a MECP2 missense variant presented with an early-onset spastic-ataxic syndrome, peripheral neuropathy, and cerebellar dysfunction, while a 16-year-old girl patient carrying a distinct de novo MECP2 missense variant displayed isolated mild motor incoordination and subtle cerebellar signs with preserved cognitive functioning. CONCLUSIONS: Our findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement. Allelic heterogeneity seems to correlate with clinical phenotypes, at least in our small cohort. In conjunction with established diagnostic criteria, these observations support testing MECP2 in a selection of atypical neurodevelopmental and movement disorder presentations.

Humans↗
PubMed2005

The role of dental evaluation and cephalometric analysis in the diagnosis of Williams-Beuren syndrome.

Williams-Beuren syndrome (WS) is a genetic condition with an incidence of 1 in 20,000-50,000 live births. The syndrome consists of supravalvular aortic stenosis, characteristic dysmorphic facial features named "elf face" and intellectual disability. Early diagnosis of the syndrome is important since many of its features require treatment, and the prognosis can be dramatically improved by early recognition and management. This developmental disorder is well known to be clinically heterogeneous, making diagnosis difficult if based on the clinical picture. However, genetic testing is expensive and it is not cost effective to screen all patients based on clinical suspicion. Our goal was to develop a novel clinical screening method that would be sensitive, specific, inexpensive and readily available. We performed cephalometric analysis and dental evaluation of 33 patients with genetically proven WS. Cephalometric analysis of soft tissues showed that with normal SNA, SNB and ANB angles, the lips were in front of the line of harmony. This finding was present in all WS patients (n = 33) but in none of the age-matched controls (n = 100). No other differences were found between WS and control patients. This cephalometric finding is specific and sensitive for WS and can be used in the diagnostic procedure, whereas none of the conventional dental evaluations are useful.

Adolescent↗
PubMed2026

PHACE syndrome: a systematic literature review and illustrative case report of a patient with severe cerebrovascular and neurodevelopmental sequelae.

BACKGROUND: PHACE syndrome is a rare neurocutaneous disorder defined by the association of large segmental infantile hemangiomas of the head and neck with malformations of the posterior fossa, cerebral and cervical arteries, heart, eyes, and ventral midline structures. Although facial hemangiomas are often the presenting feature, the cerebrovascular, neurodevelopmental, and airway manifestations are responsible for the greatest long-term morbidity. METHODS: A systematic literature review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, searching PubMed, Web of Science, EMBASE, and PsycINFO. After removal of duplicates and screening of 308 records, five studies meeting the inclusion criteria were retained for qualitative synthesis. We additionally present the case of a now 12-year-old girl with PHACE syndrome characterized by a left V1-distribution facial hemangioma, ocular abnormalities, multiple cerebrovascular venous and arterial malformations, neonatal intraventricular hemorrhage with hydrocephalus, and a subsequently diagnosed dural arteriovenous fistula requiring repeated embolization. RESULTS: The five included studies collectively describe epidemiology and early supportive care needs, long-term health outcomes and quality of life into adulthood, airway hemangioma prevalence and management, and the clinical spectrum of infantile hemangiomas with minimal or arrested growth (IH-MAG) as a cutaneous marker of PHACE syndrome. Across studies, cerebrovascular arteriopathy (72-91%) and facial hemangioma residua (> 90%) were the most consistent findings, while progressive arteriopathy, headaches, learning differences, and airway involvement emerged as the principal sources of long-term morbidity. The reported case illustrates an unusually severe cerebrovascular phenotype, including neonatal hemorrhagic hydrocephalus, dural venous sinus thrombosis, and a late dural arteriovenous fistula, culminating in ataxic cerebral palsy and mild intellectual disability. CONCLUSIONS: PHACE syndrome requires a multidisciplinary, lifelong follow-up strategy. The presented case underscores that cerebrovascular complications may evolve over years to decades after the initial diagnosis, reinforcing the need for long-term neuroradiological surveillance even after apparent clinical stability.

Humans↗
PubMed2007

Behaviour management problems as predictors of psychotropic medication and use of psychiatric services in adults with autism.

We examined behaviour management problems as predictors of psychotropic medication, use of psychiatric consultation and in-patient admission in a group of 66 adults with pervasive developmental disorder (PDD) and intellectual disability (ID) and 99 controls matched in age, gender and level of ID. Overall, people with PDD had higher rates of most DAS behaviour problems and more frequent use of anti-psychotics than matched controls. Logistic regression analyses showed that physical aggression and problems such as pestering staff independently predicted use of anti-psychotics. Physical aggression and overactivity predicted further involvement of psychiatric services. PDD diagnosis predicted admission to an in-patient unit. The results suggest that externalizing problem behaviours in adults with autism can predict type of treatment intervention.

Adult↗
PubMed2026

CACNA1C Genetic Variants Differentially Affect Neuronal Networks Through Divergent Pathways.

BACKGROUND: CACNA1C encodes the pore-forming subunit of the L-type calcium channel Cav1.2. Common variants in CACNA1C are associated with psychiatric disorders, whereas rare single nucleotide variants cause CACNA1C-related disorder, a multisystem disorder with symptoms that include autism spectrum disorder (ASD), intellectual disability, and seizures. However, the cellular mechanisms linking CACNA1C dysfunction to neurodevelopmental phenotypes remain poorly understood. METHODS: We generated isogenic CACNA1C loss-of-function induced pluripotent stem cell lines and reprogrammed a line from an individual carrying a novel predicted gain-of-function variant (p.Ala1521Pro) in CACNA1C. Neuronal activity was assessed using multielectrode arrays, pharmacological manipulation, and gene expression analysis. Early developmental phenotypes were examined using quantitative reverse transcriptase polymerase chain reaction, immunocytochemistry, and RNA sequencing. RESULTS: Neurons carrying CACNA1C variants displayed opposing alterations in network dynamics, depending on variant type. Pharmacological and molecular assays indicated that these network differences were associated with dysregulated GABAergic (gamma-aminobutyric acidergic) signaling. Early developmental analysis revealed that loss of CACNA1C altered rosette morphology, CREB (cAMP response element binding protein) phosphorylation, and transcriptional programs related to axonogenesis and synaptic signaling, indicating effects on neuronal differentiation. The patient line exhibited opposing effects on rosette morphology and CREB signaling, reflecting variant-specific effects. CONCLUSIONS: These findings demonstrate that Cav1.2 regulates excitatory-inhibitory balance, network organization, and aspects of neurodevelopment. Divergent effects of CACNA1C variants highlight how altered Cav1.2 signaling contributes to variable neurodevelopmental phenotypes, including ASD and epilepsy, and establish a framework for defining CACNA1C variant effects in human neurons.

CACNA1C↗
PubMed2005

Brain MRI findings of older patients with Pallister-Killian syndrome.

Pallister-Killian syndrome (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, intellectual disabilities, auditory disturbance, and epilepsy. Here, we describe the findings of brain magnetic resonance (MR) imaging in two patients with PKS. One patient, a 43-year-old man, showed multiple lesions with high signal intensity on T2-weighted image (WI) in the basal ganglia, and widespread T2 elongation in the periventricular white matter. The same signal change was also present in the pontine base. The other patient, a 37-year-old woman, showed T2-high lesions in the bilateral putamina and the parietal periventricular white matter. There was prominent atrophy of the cerebellum and brainstem in this latter case. Both cases showed cortical atrophy with frontal predominance, with accompanying dilatation of the lateral ventricles. Hypoplastic corpus callosum was also present in both cases. Cerebral atrophy with ventricular dilatation has been often described in PKS cases, but many of the MR findings in the present patients have never been reported. Such findings may appear with advancing age in PKS. Since 12p mosaicism is rarely detected in peripheral blood lymphocytes, examination of buccal mucosal cells with fluorescent in situ hybridization method is preferable for the diagnosis of PKS. Recognition of the characteristic features on cranial MR imaging, in addition to the characteristic facial appearance in adulthood, should prompt the correct diagnosis of adult PKS patients.

Adult↗
PubMed2026

Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.

Fragile X syndrome (FXS) is classically caused by CGG repeat expansion in the FMR1 gene leading to gene silencing. We describe two unrelated patients with clinical features consistent with FXS but harbouring distinct molecular mechanisms. The first patient had a pathogenic intronic variant in FMR1, predicted to impair protein function, and no repeat expansion. The second patient carried a complete deletion of the FMR1 gene, resulting in loss of gene expression. Both individuals presented with developmental delay, intellectual disability, and behavioural manifestations typical of FXS. These cases expand the causal heterogeneity underlying a clinically recognizable phenotype. They reinforce the concept that comprehensive molecular testing beyond repeat expansion analysis is mandatory in individuals with a strong clinical suspicion of FXS, in absence of a typical CGG triplet expansion.

Child, Preschool↗
PubMed2003

Exploring the link between character, personality disorder, and neuropsychological function.

Personality deviations and deficits in cognitive executive function are common among forensic populations. The present study on incarcerated offenders explored whether there are links between the two domains. Personality was assessed using the Temperament and Character Inventory (TCI). Neuropsychological performance, including visual working memory, attentional set-shifting and planning, were tested with the Cambridge Neuropsychological Test Automated Battery (CANTAB). Subjects with personality disorders scored high on harm avoidance, and low on self-directedness and cooperativeness. Personality disordered offenders did not differ from the comparison groups (offenders without personality disorder, and non-criminal controls) with regard to CANTAB measures of visual working memory (delayed matching to sample, spatial working memory) and planning (Stockings of Cambridge), but they made a larger number of errors on the attentional set-shifting task. Dimensional analysis of the personality and neuropsychological variables revealed significant associations between self-directedness and cooperativeness on the one hand, and attentional set-shifting on the other. Intellectually disabled, non-criminal individuals (marginal mental retardation) who performed poorly on attentional set-shifting also scored low on self-directedness and cooperativeness. The results indicate that poor development of certain personality traits may be associated with deficits in neuropsychological functioning.

Adult↗
PubMed2005

Human chromosome 21/Down syndrome gene function and pathway database.

Down syndrome, trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. Correlating the increased expression, due to gene dosage, of the >300 genes encoded by chromosome 21 with specific phenotypic features is a goal that becomes more feasible with the increasing availability of large scale functional, expression and evolutionary data. These data are dispersed among diverse databases, and the variety of formats and locations, plus their often rapid growth, makes access and assimilation a daunting task. To aid the Down syndrome and chromosome 21 community, and researchers interested in the study of any chromosome 21 gene or ortholog, we are developing a comprehensive chromosome 21-specific database with the goals of (i) data consolidation, (ii) accuracy and completeness through expert curation, and (iii) facilitation of novel hypothesis generation. Here we describe the current status of data collection and the immediate future plans for this first human chromosome-specific database.

Base Sequence↗
PubMed2003

Paediatric sleep disorders: the need for multidisciplinary sleep clinics.

UNLABELLED: The field of sleep disorders (SD) medicine crosses the boundaries of many medical specialties and disciplines. This paper aims to highlight the importance of a multidisciplinary approach to the assessment and treatment of SD in children, with particular reference to sleep-disordered breathing (SDB). The link between SDB and other SD (e.g. various parasomnias, sleep-related anxiety) illustrates the need for a holistic approach to assessment since these co-existing SD can be the most overt symptoms. Further, different approaches to treatment of the various SD are likely to be called for. Multidisciplinary care becomes particularly pertinent when dealing with clinical groups of children in which an increased prevalence of SD, including SDB, have been noted. Such groups include children with intellectual disabilities and those with neurological or psychiatric conditions. The nature of their basic condition may make it likely that SD will be overlooked with the daytime consequences of the nocturnal disturbance (e.g. cognitive/behavioural problems) misattributed to the underlying condition. CONCLUSION: An ideal national service would include a limited number of specialised sleep centres where a broad and multidisciplinary approach to the recognition, assessment and treatment of children's SD was possible.

Ambulatory Care Facilities↗
PubMed2026

Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.

Turner syndrome (TS) may involve tissue-restricted mosaicism, undetectable in standard peripheral blood karyotyping. This poses a diagnostic challenge, particularly when occult Y-chromosome material increases gonadoblastoma risk. We report an 18-year-old girl with TS (45,X), short stature on recombinant human growth hormone and severe intellectual disability, who developed virilization at age 12. Laboratory testing showed hypergonadotropic hypogonadism with elevated testosterone. Imaging failed to detect gonads. Bilateral gonadectomy revealed streak gonad tissue and testicular tissue with intratubular germ cell neoplasia and focal gonadoblastoma. High-resolution cytogenetics confirmed gonadal mosaicism with unbalanced Y/7 translocation, absent in lymphocytes. This case highlights that unexplained virilization in TS warrants immediate evaluation and that high-resolution genomic methods and timely gonadectomy are essential for cancer risk reduction.

Humans↗
PubMed2025

Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.

COX4I1 gene encodes cytochrome c oxidase subunit 4 isoform 1, involved in the early assembly stages of mitochondrial respiratory chain complex IV. To date, COX4I1 pathogenic variants have been reported in only a few cases, each exhibiting heterogeneous clinical phenotypes and limited functional data. Here, we describe the fourth reported case of COX4I1 deficiency associated with human disease, expanding the phenotypic and genetic spectrum of this rare mitochondrial disorder and providing novel clinical, molecular, and functional data. The herein reported individual presented with progressive deterioration of motor skills, intellectual disability and brain imaging abnormalities compatible with Leigh syndrome. Genetic studies combining short and long read next generation sequencing uncovered a peculiar genetic combination in this patient, harboring a de novo COX4I1 nonsense substitution in trans with an inherited deep intronic variant (c.[64C>T];[73+1511A>G]; p.[Arg22Ter];[Glu25ValfsTer9]). Functional studies performed in patient's tissues and transiently transfected cell lines demonstrated that the identified variants mainly exert their pathogenic effect by targeting COX4I1 protein levels, thereby impairing the proper assembly and activity of complex IV.Additionally, proteomic data in patient's fibroblasts suggested an underlying pathomechanism that involves not only the regulation of complex IV function but also the levels of mitoribosomal proteins. In summary, our findings shed light to clarify some of the main clinical features associated with COX4I1 deficiency and the molecular mechanisms involved in the pathogenesis of this disorder.

Humans↗
PubMed2005

Deficits in hippocampal CA1 LTP induced by TBS but not HFS in the Ts65Dn mouse: a model of Down syndrome.

Down syndrome (DS) is the most common genetically defined cause of intellectual disabilities. Both hippocampal function and volume seem to be disproportionally reduced in individuals with DS and in at least one aneuploid murine model of DS, the Ts65Dn mouse. Two previous studies by one research group have reported deficits in long-term potentiation (LTP) induced by in vitro high-frequency stimulation (HFS) of hippocampal CA1 synapses of adult Ts65Dn mice. Here, we report on the results of our own investigation on LTP in Ts65Dn mice. This study was designed to confirm the previous findings and possibly shed some light onto potential mechanisms underlying the reported deficit in this important form of long-term synaptic plasticity in a mouse model of DS. LTP was induced in area CA1 with either theta burst stimulation (TBS) or HFS. Contrary to the previous reports, our results showed no significant difference in HFS-induced LTP between Ts65Dn and euploid littermate mice. We have found, however, a significant reduction of the amount of TBS-induced LTP in Ts65Dn mice compared to euploid controls. Because this specific LTP deficit can be rescued by bath application of picrotoxin (10 microM), we hypothesize that an increase in GABA(A)-mediated inhibition or in plasticity of the inhibitory circuitry in Ts65Dn mice may underlie the observed deficits. However, future experiments to examine the state of hippocampus CA1 GABAergic inhibition in Ts65Dn mice will be necessary to further explore these hypotheses.

Animals↗
PubMed2006

Feasibility of bioelectrical impedance analysis in children with a severe generalized cerebral palsy.

OBJECTIVE: The need is strong for an accurate and easy-to-perform test to evaluate the nutritional state of children who have a severe generalized cerebral palsy, defined as a severe motor handicap and an intellectual disability. For that purpose, we determined the feasibility of bioelectrical impedance analysis (BIA) in these children and evaluated their nutritional state. METHODS: BIA recordings were done in 35 children who had a severe generalized cerebral palsy using a single-frequency BIA device. In addition, arm span and body weight were determined. Components of feasibility were whether the children tolerated the recording and felt comfortable and whether the recording could be performed in a reproducible way (prescribed body position and stable resistance and reactance values). All recordings were performed at specialized children's daycare centers or schools. RESULTS: One child (3%) did not tolerate the recording, whereas the remaining 34 children (71%) felt comfortable. Most children (74%) could be placed in the prescribed position, but stability of resistance values was low. Stability of resistance values was positively influenced by older age, a quiet location for the recording, feeling comfortable, and a small number of people in the room. For 29 children, we were able to calculate values for total body water and fat-free mass. Compared with age-matched reference values, these values were significantly decreased in all age groups. CONCLUSIONS: The present pilot study has demonstrated that BIA recording is a feasible nutritional assessment method in children who have severe generalized cerebral palsy. Because the test procedure was well tolerated by most children, its value for use in this specific population deserves further investigation.

Adolescent↗
PubMed2006

Between control and freedom in the care for persons with Prader-Willi syndrome: an analysis of preferred interventions by caregivers.

OBJECTIVE: The present study examined caregivers' preferences for intervention strategies in dealing with the dilemma of respecting autonomy of intellectually disabled persons versus providing high-quality care. METHODS: Twenty-four parents and 14 professional caregivers of persons with Prader-Willi syndrome were asked to rate four different kinds of intervention strategies according to their preferred way of dealing with 8 presented cases. RESULTS: In general, caregivers preferred to intervene more actively in eating problems compared to behavioural problems, more in acute than in chronic situations, and more in situations at home than in community-based settings. Significant differences were found between parents and professionals. CONCLUSION: Parents and professionals prefer intervening above laissez-faire. Parents prefer active intervention stronger than professionals. PRACTICE IMPLICATIONS: Awareness of various intervention strategies can help caregivers to develop a practice that does justice to the need for intervention on the one hand, and the possibility of using a variety of intervention strategies on the other hand. Communication about intervention strategies might foster understanding between professional caregivers and parents and improve mutual cooperation.

Adolescent↗