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Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

Although first rank symptoms focus on positive symptoms of psychosis they are shared by a number of psychiatric conditions. The difficulty in differentiating bipolar disorder from schizophrenia with affective features has led to a third category of patients often loosely labeled as schizoaffective. Research in schizophrenia has attempted to render the presence or absence of negative symptoms and their relation to etiology and prognosis more explicit. A dichotomous population is a recurring theme in experimental paradigms. Thus, schizophrenia is defined as process or reactive, deficit or non-deficit and by the presence or absence of affective symptoms. Laboratory tests confirm the clinical impression showing conflicting responses to dexamethasone suppression and clearly defined differences in autonomic responsiveness, but their patho-physiological significance eludes mainstream theory. Added to this is the difficulty in agreeing to what exactly constitutes useful clinical features differentiating, for example, negative symptoms of a true deficit syndrome from features of depression. Two recent papers proposed that the general and specific cognitive features of schizophrenia and major depression result from a monoamine-cholinergic imbalance, the former due to a relative muscarinic receptor hypofunction and the latter, in contrast, to a muscarinic hypersensitivity exacerbated by monoamine depletion. Further development of these ideas will provide pharmacological principles for what is currently an incomplete and largely, descriptive nosology of psychosis. It will propose a dimensional view of affective and negative symptoms based on relative muscarinic integrity and is supported by several exciting intracellular signaling and gene expression studies. Bipolar disorder manifests both muscarinic and dopaminergic hypersensitivity. The greater the imbalance between these two receptor signaling systems, the more the clinical picture will resemble schizophrenia with bizarre, incongruent delusions and increasingly disorganized thought. The capacity for affective expression, by definition a non-deficit syndrome, will remain contingent on the degree of preservation of muscarinic signaling, which itself may be unstable and vary between trait and state examinations. At the extreme end of muscarinic impairment, a deficit schizophrenia subpopulation is proposed with a primary and fixed muscarinic receptor hypofunction.

The genomic profile of bipolar disorder and schizophrenia overlap and both have a common dopaminergic intracellular signaling which is hypersensitive to various stressors. It is proposed that the concomitant muscarinic receptor upregulation differentiates the syndromes, being marked in bipolar disorder and rather less so in schizophrenia. From a behavioral point of view non-deficit syndromes and bipolar disorder appear most proximate and could be reclassified as a spectrum of affective psychosis or schizoaffective disorders. Because of a profound malfunction of the muscarinic receptor, the deficit subgroup cannot express a comparable stress response. None -theless, a convergent principle of psychotic features across psychiatric disorders is a relative monoaminergic-muscarinic imbalance in signal transduction.

Even though 95% of children with neurodevelopmental disorders, including autism spectrum disorder (ASD), live in low- and middle-income countries, there is a dearth of studies from these countries, including the Republic of Georgia. Several ASD screening tools are available, but few are validated for use in Georgian or other smaller countries. This study aims to adapt and validate the autism spectrum screening questionnaire (ASSQ) for use in Georgia.

The ASSQ was administered for all third-grade students in 402 schools in the five main Georgian cities, n = 27,336. Prior to use, the 27-item ASSQ was translated, back-translated and adapted for use in Georgia. A total of 16,556 students (approximately 61%) were assessed by a parent and/or teacher. Optimal cutoff scores were estimated. Randomly chosen children who screened positive (n = 173) and negative (n = 127) were offered comprehensive assessment using standardized diagnostic procedures.

Data from 15,510 parents- and 13,517 teachers-administered ASSQ revealed statistically significant differences in median and cutoff scores between parents and teachers: 7 versus 4 and 9 versus 6, respectively. Cutoff score = 14, on either parent or teacher ASSQ, had sensitivity of 0.94, indicating that it can be used in school settings.

The Georgian adaptation of the ASSQ creates opportunity for further ASD research, while also providing a valid screening tool for clinicians. Data from Georgia will add to the growing understanding of the broader ASD phenotype.

The purpose of this paper is to assess frailty, geriatric conditions and multimorbidity in people experiencing homelessness (PEH) using holistic evaluations based on comprehensive geriatric assessment (CGA) and draw comparisons with general population survey data.

Cross-sectional observational study conducted in a London-based hostel for single PEH over 30 years old in March–April 2019. The participants and key workers completed health-related questionnaires, and geriatric conditions were identified using standardised assessments. Frailty was defined according to five criteria in Fried’s phenotype model and multimorbidity as the presence of two or more long-term conditions (LTCs). Comparisons with the general population were made using data from the English Longitudinal Study of Ageing and the Health Survey for England.

A total of 33 people participated with a mean age of 55.7 years (range 38–74). Frailty was identified in 55% and pre-frailty in 39%. Participants met an average of 2.6/5 frailty criteria, comparable to 89-year-olds in the general population. The most common geriatric conditions were: falls (in 61%), visual impairment (61%), low grip strength (61%), mobility impairment (52%) and cognitive impairment (45%). All participants had multimorbidity. The average of 7.2 LTCs (range 2–14) per study participant far exceeds the average for even the oldest people in the general population.

To the best of authors’ knowledge, this is the first UK-based study measuring frailty and geriatric conditions in PEH and the first anywhere to do so within a CGA-type evaluation. It also demonstrates the feasibility of conducting holistic evaluations in this setting, which may be used clinically to improve the health outcomes for PEH.

Background – Disorders of sex development (DSDs) also known as “intersex” are congenital conditions in which chromosomal, gonadal, and anatomical development mismatch. One in 4,500 infants is born with abnormalities of external genitalia, which are mostly unexplained in molecular terms. Androgen insensitivity syndrome (AIS) is a common cause of DSDs.

Objective – One of the three broad subdivided phenotypes of AIS are partial androgen insensitivity syndrome (PAIS). Feminization (i.e., undermasculinization) of the exterior genitalia at birth, secondary abnormal secondary sexual development at puberty, and infertility in individuals with 46, XY karyotype are the proof. In males, PAIS is common to observe a micropenis, hypospadias, and cryptorchidism. Women who have clitoromegaly and fused labia during puberty are characterized as individuals with PAIS.

Case – We reported a 13-year-old child with the chief complaint of primer amenorrhea. The patient was a girl but not yet got her menstruation. Patient was referred by a Endocrinology Fertility and Reproductive Consultant of OBGYN who had done chromosomal and hormonal analysis. We performed a laparoscopic explorative study where we did not find uterus, fallopian tubal, and ovaries. But, we found testis in the inguinal canal.

Conclusion – Decisions regarding gender assignment are still confronted between patient’s family and medical staff. The ambiguity of genital, physical, and psychosocial adjustment for sex assignment can determine the prognosis.

Genetic risk for depressive disorders is poorly understood despite consistent suggestions of a high heritable component. Most genetic studies have focused on risk associated with single variants, a strategy which has so far only yielded small (often non-replicable) risks for depressive disorders. In this paper we argue that more substantial risks are likely to emerge from genetic variants acting in synergy within and across larger neurobiological systems (polygenic risk factors). We show how knowledge of major integrated neurobiological systems provides a robust basis for defining and testing theoretically defensible polygenic risk factors. We do this by describing the architecture of the overall stress response. Maladaptation via impaired stress responsiveness is central to the aetiology of depression and anxiety and provides a framework for a systems biology approach to candidate gene selection. We propose principles for identifying genes and gene networks within the neurosystems involved in the stress response and for defining polygenic risk factors based on the neurobiology of stress-related behaviour. We conclude that knowledge of the neurobiology of the stress response system is likely to play a central role in future efforts to improve genetic prediction of depression and related disorders.

22q11.2 deletion syndrome (22q11DS) is a risk factor for psychiatric illnesses, including schizophrenia and anxiety. Small studies have shown that several neuroleptic medications are effective in treating psychosis in this population, but are also associated with an increased risk of adverse effects - particularly, seizures. In this case, we discuss a 34-year-old patient presenting with late onset schizophrenia, which ultimately led to her diagnosis of 22q11DS. Subsequent management of the patient's psychosis with asenapine was complicated by concurrent anxiety and panic disorder; thus, we examine the role of anxiolytic therapy in conjunction with antipsychotics in this patient population.

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with RTT. Our data show that RTT has a considerable impact on both the child's development and the entire family. Parents' answers demonstrated that their child's illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.

How does the human brain absorb information and turn it into skills of its own in psychotherapy? In an attempt to answer this question, the authors will review the intricacies of processing channels in psychotherapy and propose the term transprocessing (as in transduction and processing combined) for the underlying mechanisms. Through transprocessing the brain processes multimodal memories and creates reparative solutions in the course of psychotherapy. Transprocessing is proposed as a stage-sequenced mechanism of deconstruction of engrained patterns of response. Through psychotherapy, emotional-cognitive reintegration and its consolidation is accomplished. This process is mediated by cellular and neural plasticity changes.

The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dys-tonic symptoms.