scholarly journals A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology

2021 ◽  
Vol 12 ◽  
Author(s):  
Malgorzata Marta Drozd ◽  
Maria Capovilla ◽  
Carlo Previderé ◽  
Mauro Grossi ◽  
Florence Askenazy ◽  
...  

Early-Onset Schizophrenia (EOS) is a very rare mental disorder that is a form of schizophrenia occurring before the age of 18. EOS is a brain disease marked by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestations commonly include premorbid features of Autism Spectrum Disorder (ASD), attention deficits, Intellectual Disability (ID), neurodevelopmental delay, and behavioral disturbances. After the onset of psychotic symptoms, other neuropsychiatric comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, expressive and receptive language disorders, auditory processing, and executive functioning deficits. With the purpose to better gain insight into the genetic bases of this disorder, we developed a pilot project performing whole exome sequencing of nine trios affected by EOS, ASD, and mild ID. We carried out gene prioritization by combining multiple bioinformatic tools allowing us to identify the main pathways that could underpin the neurodevelopmental phenotypes of these patients. We identified the presence of variants in genes belonging to the Wnt, cadherin and cholecystokinin receptor signaling pathways.

2017 ◽  
Vol 41 (S1) ◽  
pp. S457-S458
Author(s):  
N. Zvereva ◽  
N. Simashkova ◽  
A. Koval-Zaitsev

IntroductionAutism spectrum disorder and early onset schizophrenia have many similar symptoms, however, these are different disorders. It is important to identify the main similarities\differences in the structure of cognitive impairment to define further assistance these children correctly. We distinguished two options for cognitive defect (total and partial) in children with schizophrenia.AimsComparison of cognitive functions at children with autism spectrum disorder and early onset schizophrenia.ObjectivesTwo groups with autism spectrum disorder (ASD1 – 22 patients of MHRC mean age 8.9; ASD2 – 27 pupils of special school mean age 7,4). Two groups with early onset schizophrenia (F20.8 – 16 patients of MHRC mean age 10,2; F21 – 18 patients of MHRC mean age 10.0).MethodsBattery of pathopsychological tests for assessing cognitive functions (memory, attention, thinking), test figures of Leeper for visual perception. Z-scales were used for estimation of cognitive deficit or defect.ResultsPatients demonstrate variety of cognitive functioning. Normal cognitive functioning: ASD1* – 22%, F20.8 – 18%, F21* – 50% (* – P ≤ 0.05); partial cognitive defect: ASD1 – 27%, F20.8 – 18%, F21 – 22%; total cognitive defect: ASD1** – 50%, F20.8 – 64%, F21** – 27% (** – P ≤ 0.01). ASD1 and F20 were the worth in thinking. Children ASD1 and ASD2 demonstrate similar success in recognizing Leeper's figures.ConclusionsThere are some common features of cognitive development in children with severe forms of ASD and early onset schizophrenia, first of all in thinking.No significant differences obtained between severe – mild forms of autistic disorders in visual perception (ASD1 and ASD2).Disclosure of interestThe authors have not supplied their declaration of competing interest.


2021 ◽  
Vol 12 ◽  
Author(s):  
Maria Pontillo ◽  
Roberto Averna ◽  
Maria Cristina Tata ◽  
Fabrizia Chieppa ◽  
Maria Laura Pucciarini ◽  
...  

Schizophrenia before the age of 18 years is usually divided into two categories. Early-onset schizophrenia (EOS) presents between the ages of 13 and 17 years, whereas very-early-onset schizophrenia (VEOS) presents at or before the age of 12 years. Previous studies have found that neurodevelopmental difficulties in social, motor, and linguistic domains are commonly observed in VEOS/EOS patients. Recent research has also shown a high prevalence of neurodevelopmental disorders (e.g., intellectual disability, communication disorders, autism spectrum disorder, neurodevelopmental motor disorders) in VEOS/EOS patients, indicating genetic overlap between these conditions. These findings lend support to the neurodevelopmental continuum model, which holds that childhood neurodevelopmental disorders and difficulties and psychiatric disorders (e.g., schizophrenia) fall on an etiological and neurodevelopmental continuum, and should not be considered discrete entities. Based on this literature, in this study we focused on the overlap between neurodevelopmental disorders and schizophrenia investigating, in a large sample (N = 230) of VEOS/EOS children and adolescents, the clinical differences, at the onset of psychosis, between VEOS/EOS with neurodevelopmental disorder or neurodevelopmental difficulties and VEOS/EOS with no diagnosed neurodevelopmental disorder or neurodevelopmental difficulties. The findings showed that, in children and adolescents with a neurodevelopmental disorder or neurodevelopmental difficulties, psychosis onset occurred at an earlier age, was associated with more severe functional impairment (e.g., global, social, role), and was characterized by positive symptoms (e.g., grandiose ideas, perceptual abnormalities, disorganized communication) and disorganized symptoms (e.g., odd behavior or appearance, bizarre thinking). Instead, in children and adolescents without a neurodevelopmental disorder or neurodevelopmental difficulties, psychosis onset was mainly characterized by negative symptomatology (e.g., social anhedonia, avolition, expression of emotion, experience of emotions and self, ideational richness). Given these differences, the presence of a neurodevelopmental disorder or neurodevelopmental difficulties should be carefully investigated and integrated early into the assessment and treatment plan for VEOS/EOS patients.


CNS Spectrums ◽  
2009 ◽  
Vol 14 (7) ◽  
pp. 362-370 ◽  
Author(s):  
Maria Alice de Mathis ◽  
Juliana B. Diniz ◽  
Roseli G. Shavitt ◽  
Albina R. Torres ◽  
Ygor A. Ferrão ◽  
...  

ABSTRACTIntroduction: Research suggests that obsessive-compulsive disorder (OCD) is not a unitary entity, but rather a highly heterogeneous condition, with complex and variable clinical manifestations.Objective: The aims of this study were to compare clinical and demographic characteristics of OCD patients with early and late age of onset of obsessive-compulsive symptoms (OCS); and to compare the same features in early onset OCD with and without tics. The independent impact of age at onset and presence of tics on comorbidity patterns was investigated.Methods: Three hundred and thirty consecutive outpatients meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for OCD were evaluated: 160 patients belonged to the “early onset” group (EOG): before 11 years of age, 75 patients hadResults: The EOG had a predominance of males, higher frequency of family history of OCS, higher mean scores on the “aggression/violence” and “miscellaneous” dimensions, and higher mean global DY-BOCS scores. Patients with EOG without tic disorders presented higher mean global DY-BOCS scores and higher mean scores in the “contamination/cleaning” dimension.Conclusion: The current results disentangle some of the clinical overlap between early onset OCD with and without tics.


2016 ◽  
Vol 33 (S1) ◽  
pp. S495-S495
Author(s):  
A. Gomez Peinado ◽  
S. Cañas Fraile ◽  
P. Cano Ruiz

IntroductionAn association has been observed between obsessive symptoms in Obsessive Compulsive Disorder (OCD) and psychotic symptoms in schizophrenia, being sometimes difficult to establish a clear limit between them. The term “schizo-obsessive disorder” was proposed to describe the resulting disorder of comorbidity of OCD and schizophrenia, although it has not been definitely settled.ObjectiveTo analyze the incidence of coexistence of OCD and schizophrenia symptoms and the way it modifies the treatment and prognosis of the illness.MethodReview of some articles published in Mental Health journals such as “Salud Mental” and “Actas Españolas de Psiquiatría”.ResultsSome studies about psychotic patients have determined 15% as the average of comorbidity of OCD and schizophrenia. The probability of having OCD is six times bigger if there is psychotic pathology associated.The fact that obsessive and psychotic symptoms get together in some patients shades the prognosis bringing more negative symptoms, more depressive humor, a larger cognitive impairment, more resistance to treatment and more relapses than we can observe in OCD and schizophrenia isolated.The pharmacological treatment usually consists in neuroleptic plus anti-obsessive drugs, together with cognitive-behavioral therapy. Sometimes, when there is a very bad evolution, it is required to consider psychosurgery as one necessary option, even though its use in this context is not much widespread.ConclusionsThe simultaneous presence of OCD and schizophrenia is more common than we could expect only by chance and makes the prognosis worse, being difficult to find a truly effective treatment.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2017 ◽  
Vol 11 (1) ◽  
pp. 17-23 ◽  
Author(s):  
Arvid Nikolai Kildahl ◽  
Trine Lise Bakken ◽  
Olaf Kristian Holm ◽  
Sissel Berge Helverschou

Purpose Assessment of psychiatric disorders in people with autism spectrum disorder (ASD) and intellectual disabilities (ID) is challenging. The purpose of this paper is to explore the diagnostic decision making and strategies employed in the assessment of a young man with ASD and ID who eventually got the additional diagnosis of schizophrenia. Design/methodology/approach To describe and explore a process not easily converted into quantitative measures, it was chosen to perform a case study of a single case. Findings The combined knowledge of ASD, ID and psychiatric disorder was important in the current assessment. General assessment tools were of some value, but their results had to be interpreted with care. The same was true of a more ASD/ID-specific tool. Using multiple informers may strengthen data from such tools in this population, but does not make it interchangeable with self-report. The case presented demonstrates the possibility of negative symptoms and functional decline overshadowing positive psychotic symptoms in people with ASD/ID, as well as the expression of ASD changing with a functional decline. Originality/value The present study adds to the few previous reports on identification of psychosis in this population, and in addition, may assist clinicians in making more accurate psychiatric assessments of people with ASD/ID.


2011 ◽  
Vol 26 (S2) ◽  
pp. 324-324
Author(s):  
M. Marin Mayor ◽  
N. Martinez Martin ◽  
E. Verdura Vizcaino ◽  
R.A. Codesal Julian

IntroductionChildhood or Early Onset Schizophrenia (EOS), defined as the onset of psychotic symptoms before the thirteenth birthday, represents a rare, clinically severe variant, associated with significant chronic functional impairment and poor response to antipsychotic treatment. Despite of that, in clinical practice, atypical agents have become the treatment of choice in patients with EOS.AimsTo review the different pharmacological strategies, in which an atypical antipsychotic was used in the management of EOS in childhood and adolescence.MethodsWe conducted a literature search of articles related to the use of atypical antipsychotics in children and adolescents with EOS in the last 20 years from the Medline database.ResultsSeveral atypical antipsychotics, such as Risperidone, Olanzapine, Quetiapine, Aripiprazol and Clozapine were consistently found to reduce the severity of psychotic symptoms in EOS when compared to placebo. Although Clozapine has demonstrated to be more efficacious than other atypical and typical antipsychotics, it remains the medication of last resort due to its profile of side effects. Finally, in general, children and adolescent have a higher risk of extrapyramidal symptoms, akathisia, prolactin elevation, sedation and metabolic effects of atypical antipsychotics than adults.ConclusionsAntipsychotics are the mainstay of treatment of EOS. Randomized controlled trials suggest a trend to superior efficacy for atypical antipsychotics over classic antipsychotic. Children and adolescents trend to be more sensible to antipsychotic side effects. Clinicians should be aware of this problem and be careful when monitoring this type of treatment.


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