Pervasive Developmental Disorder Research Articles

The experiencing sensory overload project (ESOP): developing an immersive simulation experience for healthcare professionals.

Atypical sensory processing is described as a difficulty in regulating and managing sensory input in a meaningful, ordered way to make sense of the world and environment in which you find yourself. Sensory processing disorder (SPD) is common in individuals with autism, pervasive development disorders, and neurodivergent conditions [1,2,3]. The National Institute of Clinical Excellence (NICE) [2] suggest sensory processing disorders are often overlooked by education, social, and healthcare professionals, leading to health and social inequalities with individuals less able to access ‘support and services that they need to live independently’ [2 p5]. The Experiencing Sensory Overload Project (ESOP) aims to champion inclusive practice and reduce health inequalities by encouraging and enabling healthcare professionals to reconsider their approach, and their working environments to create sensorily safe spaces for individuals who may experience sensory overload. The authors recognised there was insufficient education on SPD within the current nursing curriculum. To address this theory/practice gap, training was sought externally. This consisted of a short simulation-based activity with training delivered by carers who had experience of sensory overload. This was well evaluated by the student participants; however lecturing staff felt the training did not meet our university teaching and learning standards. The positive student feedback provided the impetus to forge links with digital arts colleagues to co-create a robust, pedagogically sound and immersive learning experience. The collaborative journey of ESOP has been led and facilitated by academics from the School of Nursing and Midwifery and the School of Arts in a cross-school alliance ( Immersive learning experiences that recognise and champion diversity must be integrated into the curricular of all healthcare professionals to promote the highest standards of patient care. Meeting this demand with innovative, immersive technology demands collaborative working. This cross-school alliance has produced a learning experience that can work towards reducing health inequalities, promoting independence, and championing inclusive practice. The experiencing sensory overload project (ESOP) collaborative journey 2019–2022 1. Walbam KM. The relevance of sensory processing disorder to social work practice: An interdisciplinary approach. Child and Adolescent Social Work Journal. 2014;31(1):61–70. 2. National institute Clinical Excellence. Autism spectrum disorder in adults: diagnosis and management. London: NICE; 2012. 1–42. CG142 3. Bolaños C, Gomez MM, Ramos G, Rios del Rio J. Developmental risk signals as a screening tool for early identification of sensory processing disorders. Occupational therapy international. 2016;23(2):154–164.

Medical cannabis in autism spectrum disorder: a specialist perspective

Autism spectrum disorder (ASD) is a pervasive developmental disorder that is thought to affect 52 million people globally. Individuals are commonly affected by comorbid behavioural difficulties and psychiatric conditions. However, when considering the tolerability of currently available licensed medications, there are limited treatments for ASD. Cannabis-based medicinal products (CBMPs) have been proposed as a potential novel therapeutic for ASD based on the pre-clinical evidence of the effects of cannabinoids on anxiety, mood, behaviour and motor skills. However, clinical translation has been limited. Moreover, studies suggest that CBMPs are well tolerated by those with ASD. While randomised controlled trials are still necessary, those with ASD can be considered for treatment with CBMPs if they have failed to respond to licensed therapies following assessment at a specialist clinic, such as Sapphire Medical Clinics.

Assessing The Dangers Of A Hospital Stay For Patients With Developmental Disability In England, 2017-19.

People with developmental disability have higher health care needs and lower life expectancy compared with the general population. Poor quality of care resulting from interpersonal and systemic discrimination may further entrench existing inequalities. We examined the prevalence of five avoidable in-hospital patient safety incidents (adverse drug reactions, hospital-acquired infections, pressure ulcers, postoperative pulmonary embolism or deep vein thrombosis, and postoperative sepsis) for four developmental disability groups (people with intellectual disability, chromosomal abnormalities, pervasive developmental disorders, and congenital malformation syndrome) in the English National Health Service during the period April 2017-March 2019. We found that the likelihood of experiencing harm in disability groups was up to 2.7-fold higher than in patients without developmental disability. Patient safety incidents led to an excess length-of-stay in hospital of 3.6-15.4 days and an increased mortality risk of 1.4-15.0percent. We show persisting quality differences in patients with developmental disability, requiring an explicit national policy focus on the needs of such patients to reduce inequalities, reach parity of care, and lower the burden on health system resources.

Catatonia: A Rare Manifestation of Autism

Background: Autism disorders which are also known pervasive developmental disorders as are very complex and heterogeneous

Changes in child and adolescent psychiatric care with respect to autism spectrum disorders

The evaluation unit for pervasive developmental disorders and autism - diagnostic center of Seine-et-Marne "United" has been open for eleven years within the child and adolescent psychiatry department. At the beginning, it welcomed patients as a first intention, or not, at a time when the diagnosis verbalized to the families was not self-evident. It has gradually taken on the role of an evaluation center for complex situations, pushed in this by the political authorities who are trying to structure (to change) the life course of people with autism. The Canadian "SACCADE" model opens up avenues of reflection on the understanding of autism, thus reexamining the place of the caregiver in child psychiatry.

Bioinformatics analysis of genomic and immune infiltration patterns in autism spectrum disorder.

BackgroundAutism spectrum disorder (ASD) is a specific type of pervasive developmental disorder, and most studies suggest that the onset of autism may be related to genetic and immune factors. The etiology of autism and the underlying molecular events need to be further addressed.MethodsThe ASD-related dataset GSE18123 was downloaded from the Gene Expression Omnibus (GEO) database. Gene set enrichment analysis (GSEA) was used to screen for Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways that may be associated with autism. The top 5,000 genes with an absolute median difference were obtained, and a co-expression network was constructed using weighted correlation network analysis (WGCNA). In addition, GO and KEGG enrichment analyses were performed for genes in the modules most closely related to ASD. Hub genes were found in the significant modules, and the expression values and receiver operating characteristic (ROC) curves of the hub genes were analyzed and validated. Immune cell infiltration in ASD was calculated using the CIBERSORT algorithm, and the relationship between hub genes and immune cells was analyzed. Finally, GSEA was used to explore the potential pathways of hub genes affecting ASD.ResultsThe 5,000 DEGs were divided into eight significant modules by WGCNA. The green module was most significantly associated with ASD, and two hub genes [fatty acid-binding protein 2 (FABP2) and Janus kinase 2 (JAK2)] were found. Immune cell infiltration showed that resting dendritic cells and monocytes differed significantly in ASD and healthy individuals. FABP2 was significantly associated with memory B cells and CD8 T cells. JAK2 was significantly associated with monocytes, CD4 activated memory T cells, CD4 resting memory T cells, activated dendritic cells, gamma delta T cells, regulatory T cells (Tregs), CD8 T cells, and naïve CD4 T cells. FABP2 and JAK2 were found to affect multiple pathways of immunity.ConclusionsFABP2 and JAK2 may influence the immune microenvironment of ASD by regulating immune cells and immune-related pathways and are candidate molecular markers for the development of ASD.

Associations Between Maternal Antenatal Corticosteroid Treatment and Psychological Developmental and Neurosensory Disorders in Children

Corticosteroids administered to women at risk of imminent preterm birth is one of the most effective ways to improve the prognosis of infants born preterm. Scant data about long-term neurodevelopmental and neurosensory outcomes among the treatment-exposed children are mixed, suggesting that not all domains of neurodevelopmental and neurosensory function may be equally affected. Moreover, the long-term outcomes may vary according to whether the treatment-exposed children are being born preterm (<37 weeks and 0 days) or term (≥37 weeks and 0 days). To study whether antenatal corticosteroid treatment is associated with psychological developmental and neurosensory disorders in children born term and preterm and whether the associations persist in a sibling-comparison design. This population-based retrospective register-linkage study comprised all singleton live births in Finland between January 1, 2006, and December 31, 2017, followed up until December 31, 2018, as well as a sibling comparison among term sibling pairs. Data were analyzed from March 21, 2021, to July 7, 2022. Antenatal corticosteroid treatment. Cox proportional hazards regression models were used to estimate the associations between antenatal corticosteroid treatment and physician-diagnosed specific developmental disorders of speech and language, scholastic skills, and motor function; pervasive developmental disorder; other or unspecified psychological developmental disorder; disorders of vison and hearing; epilepsy; and cerebral palsy. The study population comprised 670 097 singleton children (342 562 boys [51.1%]) followed up for a median of 5.8 years (IQR, 3.1-8.7 years). Of the 14 868 treatment-exposed children (2.2%; 53.9% boys), 6730 (45.3%) were born term, and 8138 (54.7%) were born preterm, and of the 655 229 nonexposed children (97.8%; 51.1% boys), 634 757 (96.9%) were born term, and 20 472 (3.1%) were born preterm. Of the 241 621 eligible maternal sibling pairs born term, 4128 (1.7%) were discordant for treatment exposure. Compared with nonexposure in the entire population, treatment exposure was significantly associated with higher adjusted hazard ratios (aHRs) for specific developmental disorders of speech and language (aHR, 1.38 [95% CI, 1.27-1.50]; P < .001), specific developmental disorders of scholastic skills (aHR, 1.32 [95% CI, 1.13-1.54]; P = .004), specific developmental disorder of motor function (aHR, 1.32 [95% CI, 1.18-1.49]; P < .001), pervasive developmental disorder (aHR, 1.35 [95% CI, 1.17-1.56]; P < .001), other or unspecified disorder of psychological development (aHR, 1.88 [95% CI, 1.58-2.25]; P < .001), and vision or hearing loss (aHR, 1.22 [95% CI, 1.04-1.43]; P = .02). Compared with nonexposure in the term-born group, treatment exposure was significantly associated with higher aHRs for specific developmental disorders of speech and language (aHR, 1.47 [95% CI, 1.31-1.66]; P < .001), specific developmental disorders of scholastic skills (aHR, 1.28 [95% CI, 1.01-1.63]; P = .04), specific developmental disorder of motor function (aHR, 1.38 [95% CI, 1.12-1.70]; P < .001), pervasive developmental disorder (aHR, 1.42 [95% CI, 1.16-1.75]; P < .001), other or unspecified disorder of psychological development (aHR, 1.92 [95% CI, 1.51-2.43]; P < .001), epilepsy (aHR, 1.57 [95% CI, 1.22-2.01]; P < .001), and cerebral palsy (aHR, 2.18 [95% CI, 1.47-3.23]; P < .001). The hazard for any psychological developmental and neurosensory disorder was significantly higher for the treatment-exposed sibling compared with the nonexposed cosibling (absolute difference, 1.2% [95% CI, 0.03%-2.4%]; P < .001; aHR, 1.22 [95% CI, 1.04-1.42]; P = .01). Antenatal corticosteroids were not associated with either significant benefit or risk in the preterm group. This study suggests that the possible long-term psychological developmental and neurosensory harms warrant careful consideration of risks and benefits when deciding on maternal antenatal corticosteroid treatment.

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method

BackgroundAround 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The objective of the study is to evaluate the pattern of oral health care course for patients with any rare genetic disease. Description of oral phenotypic signs—which predict a theoretical dental health care course—and effective orientation into an oral healthcare were evaluated.Materials and methodsWe set up a retrospective cohort study to describe the consideration of patient oral health and potential orientation to an oral health care course who have at least been seen once between 1 January 2017 and 1 January 2020 in Necker Enfants Malades Hospital. We recruited patients from this study using the data warehouse, Dr Warehouse® (DrWH), from Necker-Enfants Malades Hospital.ResultsThe study sample included 39 rare diseases, 2712 patients, with 54.7% girls and 45.3% boys. In the sample studied, 27.9% of patients had an acquisition delay or a pervasive developmental disorder. Among the patient files studied, oral and dental phenotypic signs were described for 18.40% of the patients, and an orientation in an oral healthcare was made in 15.60% of patients. The overall "network" effect was significantly associated with description of phenotypic signs (corrected p = 1.44e−77) and orientation to an oral healthcare (corrected p = 23.58e−44). Taking the Defiscience network (rare diseases of cerebral development and intellectual disability) as a reference for the odd ratio analysis, OSCAR, TETECOU, FILNEMUS, FIMARAD, MHEMO networks stand out from the other networks for their significantly higher consideration of oral phenotypic signs and orientation in an oral healthcare.ConclusionTo our knowledge, no study has explored the management of oral health in so many rare diseases. The expected benefits of this study are, among others, a better understanding, and a better knowledge of the oral care, or at least of the consideration of oral care, in patients with rare diseases. Moreover, with the will to improve the knowledge on genetic diseases, oral heath must have a major place in the deep patient phenotyping. Therefore, interdisciplinary consultations with health professionals from different fields are crucial.

Treatment of a girl from Tunisia with typical autism: Evidence-based medicine and expert opinion

Background: Autistic disorders which have been increasingly known as pervasive developmental disorders since the 1980s represent a heterogeneous group of disorders that share a significant impairment in communication and social interaction. Typical autism is not associated with significant mental retardation while patients having classical autism which is also called Kanner syndrome have normal or high intelligence. Patients and methods: The mother of an eight-year-old girl from Tunisia consulted us about the possible therapies for her daughter who was thought to have autistic features. Results: The girl had the two major diagnostic features autistic as she was not responding appropriately to her name by turning her toward the voice and she had poor eye contact. The girl can count from 1 to one thousand and knows the letters of Arabic, French, and English language. She knows the colors and some other vocabulary. The girl was hyperactive and spending some time in moving purposely inside the home. Based on our extensive published experiences with treatment of autistic disorders, we recommended an initial therapeutic course which included a course of intramuscular cerebrolysin. Conclusion: An expert therapeutic recommendation for the condition is described.

Treatment of a girl from Tunisia with typical autism: Evidence-based medicine and expert opinion

Background: Autistic disorders which have been increasingly known as pervasive developmental disorders since the 1980s represent a heterogeneous group of disorders that share a significant impairment in communication and social interaction. Typical autism is not associated with significant mental retardation while patients having classical autism which is also called Kanner syndrome have normal or high intelligence. Patients and methods: The mother of an eight-year-old girl from Tunisia consulted us about the possible therapies for her daughter who was thought to have autistic features. Results: The girl had the two major diagnostic features autistic as she was not responding appropriately to her name by turning her toward the voice and she had poor eye contact. The girl can count from 1 to one thousand and knows the letters of Arabic, French, and English language. She knows the colors and some other vocabulary. The girl was hyperactive and spending some time in moving purposely inside the home. Based on our extensive published experiences with treatment of autistic disorders, we recommended an initial therapeutic course which included a course of intramuscular cerebrolysin. Conclusion: An expert therapeutic recommendation for the condition is described.

Early-onset of social communication and locomotion activity in F2 pups of a valproic acid-induced mouse model of autism

Autism spectrum disorder (ASD) is a heterogeneously pervasive developmental disorder that usually occurs before 3 years old. Animal models of psychiatric disorders are essential for elucidating the underlying preclinical neural mechanisms. Mice that are prenatally exposed to valproic acid (VPA, F1) are widely used as an ASD model. Epigenetics has recently been suggested as a contributor to ASD etiology with the hypothesis that epigenetic marks can be transgenerationally inherited. Previous studies have indicated that autism-like behavioral phenotypes detected in F1 VPA mice transgenetically appear in F2 and F3 generations. However, studies on the autism-like behavioral phenotypes during the early postnatal days in subsequent generations are scarce. Here, the behavioral deficit on postnatal day 5 of the F2 generation was examined to assess the onset of ASD symptoms. Communication disorders were examined by analyzing maternal separation-induced ultrasonic vocalizations (USVs). Although the duration and frequency of USVs were not significantly altered, the emission rate was significantly lower in F2 VPA pups. Furthermore, the locomotive activity with or without littermates was altered in F2 VPA pups. The data of the current study suggest that social deficit and impaired locomotion are inherited by the subsequent generation and were apparent on early postnatal day 5.

Ophthalmologic Manifestations in Autism Spectrum Disorder.

Objectives:The purpose of this study was to describe the ophthalmologic manifestations found in patients with autism spectrum disorder (ASD) and to assess their prevalence in the different types of ASD.Materials and Methods:This prospective observational study included 344 patients with ASD seen over a period of 8.5 years. They were classified into four subgroups (autism, Asperger syndrome, pervasive developmental disorders not otherwise specified [PDD-NOS], and other). Data obtained from ophthalmological examinations were compared between the groups. Statistical analysis was performed with chi-square, Kruskal-Wallis, and Mann-Whitney tests.Results:Refractive defects were detected in 48.4% of the patients, with the most prevalent being hyperopia and astigmatism. There was a higher prevalence of myopia in Asperger syndrome. Evaluation of extraocular motility revealed the presence of strabismus in 15.4% of patients, with a statistically significantly higher prevalence in autism and the “other” disorders group. The most frequent type of strabismus was exotropia. Convergence was found to be normal in 43.6% of the patients. Nystagmus was observed in only 0.9% of patients. In the binocular sensory tests performed, patients with Asperger syndrome had significantly better results compared to the other groups. Optic nerve abnormalities were found in 4% of patients, with significantly higher prevalence in the “other” disorders group.Conclusion:Ophthalmologic manifestations occur more frequently in patients with ASD than in the general child population. Of these, the most frequent are refractive defects and ocular motility disorder. Therefore, we consider it necessary to perform an ophthalmological evaluation in patients with ASDs.

Assistência à saúde mental de crianças brasileiras utilizando dados ambulatoriais

ABSTRACT Objective To investigate the clinical epidemiological characteristics of a large data set of visits to outpatient children mental health services in Brazil, as well as to identify relevant relationships between age, sex and three common mental disorders in childhood: pervasive developmental disorders, ADHD, and mild depressive disorders. Methods We extracted data from the Ambulatorial Information System (SIA) part of a public repository, Datasus, regarding child outpatient mental health services in Brazil, from 2008 to 2012. We performed an analysis of the number of visits per one hundred thousand inhabitants and further analyses with logistic regressions for ADHD (F90.0), Pervasive Developmental Disorders (F84.0-F84.9), and Mild Depressive Episode (F32.0) as outcomes, controlling for age, year of the visit, number of new CAPSI stratified by region. Results Attention-deficit hyperactivity disorder (ADHD) was the most common condition identified across the country. The analyses by region showed a high number of visits due to mental retardation in the Northeast and depressive episodes in the South. Regressions showed that older children are less likely to visit outpatient services with a diagnosis of ADHD (F90.0). Conclusions Our analysis shows the conditions which cause the most burden to the child psychiatry outpatient centers in Brazil and relevant differences between regions. This information has immediate use for the training of staff and allocation of resources in each region.

Role of Carcinosinum in Autism Spectrum Disorder- A Case series

Introduction: Autism Spectrum Disorder (ASD) is a pervasive developmental disorder having the potential to cause lifelong disability. Individualised homoeopathic remedies are found to be safe and effective in the management of ASD. Cases Summary: Three cases of ASD treated with Carcinosinum at the Child psychiatry unit of the National Homoeopathy Research Institute in Mental Health, Kottayam are presented to show the action of this nosode in ASD. Indian Scale for Assessment of Autism (ISAA), an indigenous tool, was used for the assessment of severity at baseline and subsequent follow-up visits. Remarkable improvement was observed in these three cases. After one year of treatment, the baseline ISAA scores of 151, 127 and 132 turned to 65, 14 and 15, respectively (ISAA score 153 Severe Autism).

Evaluation and Analysis of the Intervention Effect of Systematic Parent Training Based on Computational Intelligence on Child Autism.

Autism, also known as pervasive developmental disorder or autism spectrum disorder, is a group of clinical syndromes of developmental delay or impairment. Social impairment, verbal communication impairment, and behavioral impairment are the three conditions for the diagnosis of autism spectrum disorder, according to the American Psychiatric Association's Diagnostic and Statistical Manual. According to relevant statistics, about 1 in 100 children is now diagnosed with autism, and their rehabilitation treatment is also valued by people from all walks of life. In the rehabilitation training of autistic children, it is found that the rehabilitation training of autistic children should pay attention to the role of parents and family environment. It is crucial that parents receive systematic training and act as partners in the development of the intervention plan. Research shows that a specific structured education and skills training program for parents of children with autism can be beneficial in improving behavioral problems, functional communication, and symptoms of autism in children with autism. To this end, this paper has completed the following work: Secondly, a portion of the systematic training of CA parents is discussed, followed by an explanation of the structure and principles of BPNN. Finally, the BPNN is utilized to create a model for assessing the impact of systematic parent instruction on CA. The experimental findings suggest that the proposed BPNN outperforms the competition.

EVALUATION OF READABILITY AND CONTENT OF TEXTS ON AUTISM SPECTRUM DISORDER

Informative texts on the websites may make positive contributions to patient-physician communication and patients' compliance. The readability and comprehensibility of the information resources on the Internet is as important as the content, accuracy, and reliability. Access to accurate and understandable resources for individuals who want to learn about Autism Spectrum Disorder (ASD) will play an important role in the management of ASD. In our study, it was aimed toevaluate the contents and readability of information texts presented on Turkish websites about ASD. A total of 400 websites were evaluated in Google search using the keywords "autism, autism spectrum disorder, autistic disorder, pervasive developmental disorder". The average readability level was analyzed using the Ateşman and Bezirci-Yılmaz readability formulas. The text contents were divided into two groups "websites prepared by healthcare professionals" and "websites prepared by non-health professionals" and compared. Forty-three websites were eligible for evaluation. The readability level of the websites is “difficult” according to the Ateşman formula; According to the Bezirci-Yılmaz formula, it was found to be "undergraduate level". The percentage of content of all evaluated websites (n=43) was found to be 65.12±22.71. The content percentage of the websites prepared by health professionals was 81.18±19.32, and the content percentage of websites prepared by non-healthcare professionals was 42.00±3.94 (p=0.001). Access to health information on the Internet has a critical value for individuals with chronic diseases and their families. Early diagnosis of children with ASD and access to early intensive intervention have an important place in the prognosis of the disorder. The readability and comprehensibility of the texts on websites, which are the first source of reference for most families, may contribute to the management.

Autism diagnostic criteria, symptoms, child diagnosis and evaluation scales

Autistic children have not withdrawn from reality due to some mental illness, rather they have failed to come out in reality due to a serious, and to a large extent, developmental disorder. As a result, autism is not currently considered psychosis, but is classified as a pervasive developmental disorder. This means that it is classified along with the other developmental difficulties rather than the mental illnesses themselves.

Human Umbilical Cord Blood Infusions in the Management of Autism Spectrum Disorder.

Objective: To provide an overview of the role of umbilical cord blood (UCB) in managing autism spectrum disorder (ASD) symptoms in children aged 4-8 years.Data Sources: A systematic literature search was conducted using the terms (autism OR autism spectrum disorder AND umbilical cord blood infusion UCB OR umbilical cord blood). The review was limited to articles published in the English language from 1945 to September 2020. The database search included PubMed, Scopus, and EMBASE.Study Selection: The initial search revealed 165 hits of potential relevance.Data Extraction: The articles were analyzed to obtain clinical information relevant to meeting the review objectives.Data Synthesis: After title, abstract, and full article review, 3 UCB studies were selected for analysis.Results: The systematic review showed mixed results. In the first study, improvements were seen in the socialization and communication domains and adaptive behavior with UCB infusion. The Pervasive Developmental Disorder Behavior Inventory composite T score and Expressive One-Word Picture Vocabulary Test (EOWPVT) score also improved. Symptomatic improvement was seen in half of the patients. The second study showed no improvement in the EOWPVT, Receptive One-Word Picture Vocabulary Test, Clinical Global Impressions scale, or Vineland Adaptive Behavior Scales (VABS), second edition. The third study showed nonsignificant improvement in the VABS, third edition socialization scale scores; however, major improvement in the communication domain was seen for those with nonverbal IQ ≥ 70. No serious adverse events were reported in any of the studies.Conclusion: Few studies have evaluated the role of UCB infusion in addressing symptoms of ASD. Due to the limited number of studies, more research is warranted.

Microbiota, Immune System and Autism Spectrum Disorders: An Integrative Model Towards Novel Treatment Options

The functioning of the central nervous system (CNS) is the result of the integration of bidirectional messages between the brain and peripheral organs. Despite the anatomical separation, gut microbiota, i.e., the microorganisms colonising the gastrointestinal tract, is related to the CNS through the so-called “gut–brain axis” that is also involved in immune processes. The recent literature indicates that the gut microbiota may affect brain functions through endocrine and metabolic pathways, antibody production and the enteric network, while supporting its possible role in the onset and maintenance of several neuropsychiatric and neurodevelopmental disorders, such as autism spectrum disorders (ASDs). The term ASDs includes autistic disorder, Asperger’s syndrome, childhood disintegrative and pervasive developmental disorders not otherwise specified different. All these conditions are characterised by persistent deficits in social communication and social interaction, as well as limited and repetitive behaviours, interests or activities. In the last two decades, an impressive number of cross-sectional studies reported significant differences in microbiota composition between children with an ASD and controls, thus strengthening the hypothesis of a possible link between GI dysbiosis and ASD. The amount of studies documenting the possible involvement of microbiota in ASD pathogenesis led to considering whether treatments acting on gut flora could ameliorate ASD symptoms. The available findings, although preliminary, would indicate data gut microbiota might represent an interesting field of research for a better understanding of the pathophysiology of ASD (of also of other neuropsychiatric disorders), and possibly a target for the development of innovative treatments just labelled as “psychobiotics”.DisclosureNo significant relationships.

Pervasive developmental disorders with a complex structure (epileptic seizures, catatonic, hallucinatory and manic symptoms, delirious episodes during life)

IntroductionThe significant clinical efficacy of lithium and lamotrigine in the described patients is consistent with the hypothesis that microdeletion of the SHANK3 gene may be associated with bipolar disorder.ObjectivesThe described phenotypes were characterized by intellectual disability, general speech underdevelopment, muscle hypotonia, and developmental dyspraxia. Their causal relationships with epileptic encephalopathy, schizophrenia, bipolar and hyperkinetic disorders have been analyzed.MethodsProspective studies of two patients with Phelan McDermid syndrome (22q13.3 microdeletions of the SHANK3 gene) within 10-12 years after genome scanning allowed describing the clinical polymorphism of developmental disorders. The sensitivity of psychotic symptoms to antipsychotic and mood stabilizer therapy has also been studied.ResultsManifest psychotic disorders in patients did not reveal an affinity for therapy with amisulpride, haloperidol, quetiapine, which demonstrated a partial therapeutic response to treatment with aripiprazole, which cast doubt on the possibility of qualifying psychotic symptoms in patients as the debut of schizophrenia. The partial therapeutic efficacy of combination therapy with aripiprazole and benzodiazepines (clonazepam/diazepam) qualified psychotic episodes in two patients with 22q13.3 syndrome as pediatric delirium. The significant clinical efficacy of lithium and lamotrigine in the described patients is consistent with the hypothesis that microdeletion of the SHANK3 gene may be associated with bipolar disorder.ConclusionsThe combination of lithium and lamotrigine may be recommended for the treatment of polymorbid mental disorders in patients with ASD and 22q13.3 syndrome. If lithium salts are poorly tolerated, a combination of lamotrigine and aripiprazole may be used to treat polymorbid mental disorders with confusion and catatonic symptoms in ASD.DisclosureNo significant relationships.