Non-Suicidal Self-Injury (NSSI) Patterns in Adolescents from a Romanian Child Psychiatry Inpatient Clinic.

Non-Suicidal Self-Injury (NSSI) involves deliberately causing harm to one's body without the intention of suicide. As the numbers of adolescents presenting NSSI have been steadily increasing during the last years, we intended to investigate adolescent patients exhibiting NSSI, admitted to our clinic-a Romanian child psychiatry inpatient clinic, over the course of five years. A total of 100 adolescents (80 females, 20 males, mean age: 14.9 years) hospitalized for various neuropsychiatric disorders and engaging in self-harm were studied. The self-harm methods most frequently used in our sample were, for the female group: cutting (all), skin tearing (76%), scratching/pinching (72%), and for males: cutting (all), wound-healing hindrance (85%), striking objects (80%). The initial motivations for NSSI were represented by distress (females 89%, males 90%) and seeking pleasure (females 84%). In terms of the roles of NSSI, it was primarily used for emotional regulation (females 89%) and anger management (males 90%). This study highlights the prevalence of self-harm in hospitalized adolescents, differences in methods and motivations between genders, and the need for more targeted therapy interventions. By documenting trends, investigating underlying motivations and functions, and proposing hypotheses for further research, our findings offer valuable insights on adolescent NSSI and have the potential to increase awareness among various clinicians and specialists who interact with adolescents, thus addressing the escalating prevalence of self-harm behaviours among teenagers.

Cognitive Coping Strategies among Inpatient Adolescents with Depression and Psychiatric Comorbidity.

The aim of the present study is to describe and measure the cognitive emotion regulation strategies of inpatient adolescents with clinical depression, aged 13-18, and to analyse these coping strategies in relation to different comorbidities of Major Depressive Disorder (MDD). METHODS: There were 112 adolescents with MDD who were admitted to hospital and 78 healthy adolescents included in the study. The Cognitive Emotion Regulation Questionnaire (CERQ) was used to assess nine specific cognitive coping strategies. A cognitive coping style model for depression in adolescents was described by analysing the differences between the two groups. The CERQ scores in MDD participants, grouped by comorbidity, were also assessed. RESULTS: Adolescents with MDD had significantly higher scores for Self-Blame and Catastrophising strategies, and significantly lower scores for Positive Refocusing, Refocusing on Planning, and Positive Reappraisal. Adolescents with MDD and Borderline Personality Disorder (BPD) traits had significantly higher scores for Rumination, Catastrophising, and Blaming Others than adolescents with MDD and anxiety or with no comorbidity. CONCLUSIONS: Clinical depression in adolescents is associated with a cognitive profile that consists of an increased use of maladaptive coping styles and low employment of adaptive strategies. Early identification can contribute to the development of specific, individualised prevention and intervention programmes, while further longitudinal studies are necessary to adequately measure the outcome of these interventions.

Bidirectional genetic overlap between autism spectrum disorder and cognitive traits.

Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitive traits. We analyzed data from genome-wide association studies (GWAS) of INT (n = 269,867), EDU (n = 766,345) and ASD (cases n = 18,381, controls n = 27,969). We used the bivariate causal mixture model (MiXeR) to estimate the total number of shared genetic variants, local analysis of co-variant annotation (LAVA) to estimate local genetic correlations, conditional false discovery rate (cond/conjFDR) to identify specific overlapping loci. The MiXeR analyses showed that 12.7k genetic variants are associated with ASD, of which 12.0k variants are shared with EDU, and 11.1k are shared with INT with both positive and negative relationships within overlapping variants. The majority (59-68%) of estimated shared loci have concordant effect directions, with a positive, albeit modest, genetic correlation between ASD and EDU (rg = 0.21, p = 2e-13) and INT (rg = 0.22, p = 4e-12). We discovered 43 loci jointly associated with ASD and cognitive traits (conjFDR<0.05), of which 27 were novel for ASD. Functional analysis revealed significant differential expression of candidate genes in the cerebellum and frontal cortex. To conclude, we quantified the genetic architecture shared between ASD and cognitive traits, demonstrated mixed effect directions, and identified the associated genetic loci and molecular pathways. The findings suggest that common genetic risk factors for ASD can underlie both better and worse cognitive functioning across the ASD spectrum, with different underlying biology.

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.

Orofaciodigital syndrome I (OFD1-MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females. The gene responsible for this condition, OFD1 centriole and centriolar satellite protein (OFD1), is involved in primary cilia formation and several cilia-independent biological processes. The functional and structural integrity of the cilia impacts critical brain development processes, explaining the broad range of neurodevelopmental anomalies in ciliopathy patients. As several psychiatric conditions, such as autism spectrum disorders (ASD) and schizophrenia, are neurodevelopmental in nature, their connections with cilia roles are worth exploring. Moreover, several cilia genes have been associated with behavioral disorders, such as autism. We report on a three-year-old girl with a complex phenotype that includes oral malformations, severe speech delay, dysmorphic features, developmental delay, autism, and bilateral periventricular nodular heterotopia, presenting a de novo pathogenic variant in the OFD1 gene. Furthermore, to the best of our knowledge, this is the first report of autistic behavior in a female patient with OFD1 syndrome. We propose that autistic behavior should be considered a potential feature of this syndrome and that active screening for early signs of autism might prove beneficial for OFD1 syndrome patients.

Re-emerging concepts of immune dysregulation in autism spectrum disorders.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by communication and social interaction deficits, and by restricted interests and stereotyped, repetitive behavior patterns. ASD has a strong genetic component and a complex architecture characterized by the interplay of rare and common genetic variants. Recently, increasing evidence suggest a significant contribution of immune system dysregulation in ASD. The present paper reviews the latest updates regarding the altered immune landscape of this complex disorder highlighting areas with potential for biomarkers discovery as well as personalization of therapeutic approaches. Cross-talk between the central nervous system and immune system has long been envisaged and recent evidence brings insights into the pathways connecting the brain to the immune system. Disturbance of cytokine levels plays an important role in the establishment of a neuroinflammatory milieu in ASD. Several other immune molecules involved in antigen presentation and inflammatory cellular phenotypes are also at play in ASD. Maternal immune activation, the presence of brain-reactive antibodies and autoimmunity are other potential prenatal and postnatal contributors to ASD pathophysiology. The molecular players involved in oxidative-stress response and mitochondrial system function, are discussed as contributors to the pro-inflammatory pattern. The gastrointestinal inflammation pathways proposed to play a role in ASD are also discussed. Moreover, the body of evidence regarding some of the genetic factors linked to the immune system dysregulation is reviewed and discussed. Last, but not least, the epigenetic traits and their interactions with the immune system are reviewed as an expanding field in ASD research. Understanding the immune-mediated pathways that influence brain development and function, metabolism, and intestinal homeostasis, may lead to the identification of robust diagnostic or predictive biomarkers for ASD individuals. Thus, novel therapeutic approaches could be developed, ultimately aiming to improve their quality of life.

The Moderating Role of Emotional Regulation on the Relationship between School Results and Personal Characteristics of Pupils with Attention Deficit/Hyperactivity Disorder.

This study aimed to explore the possible moderating role of emotional regulation in the relationship between problem-solving ability, visuomotor precision and visuospatial integration on the one hand and school results on the other in pupils with ADHD. A total of 241 pupils with ADHD (study group) and 207 children without ADHD (control group) were included in our research. Specific tests for the evaluation of the problem-solving ability, visuomotor precision, visuospatial integration, and emotional regulation were applied. The results showed that emotional regulation is a significant moderator of the relationship between school results and problem-solving ability, visuomotor precision, visuospatial integration, and working memory. There are statistically significant differences depending on emotional regulation, visuomotor precision, visuospatial integration, problem-solving ability and working memory in terms of school results of students with ADHD compared to children without this diagnosis. These results can be used in the development of intervention programs.

Recognition of early warning signs and symptoms - the first steps on the road to Autism Spectrum Disorder diagnosis.

OBJECTIVE: To identify developmental symptoms reported at firsts doctor visits by parents of children later diagnosed with Autism Spectrum Disorder (ASD). DESIGN: Cohort study. SETTING: The study was conducted in the Department of Psychiatry Research of "Prof. Dr. Alexandru Obregia" Clinical Psychiatry Hospital from Bucharest between September 2019 and May 2021. PATIENTS: 105 cases: 82 boys and 23 girls, 100 children with autism, and 5 patients with Asperger's syndrome. INTERVENTION: ASD was diagnosed according to the DSM-5 criteria, ADOS-1 (Autism Diagnostic Observation Schedule, 1st Edition) and/or ADI-R (Autism Diagnostic Interview-Revised) tests scores; features reported by the parents for which they presented to the doctor for a diagnosis were taken into consideration. MAIN OUTCOME MEASURES: The age at first presentation to the doctor; the most common early signs reported by the parents of children with ASD. RESULTS: The age at first presentation to the doctor in our group was between 9 months and 14 years. The most common early signs reported by parents were: delayed language development, deficits in understanding verbal instructions/indications, and hyperactivity and aggressivity. In the case of patients with Asperger's syndrome, the reported features were hyperactivity and aggressivity, learning difficulties, and social interaction problems. Regression and delay in language development occurred more often in boys than in girls. CONCLUSIONS: Parents, as well as family doctors or paediatricians, should pay great attention to the children's behaviour, alongside their cognitive and language development. Early detection is essential for early intervention and our results can be used to develop training programs for parents and paediatricians for early recognition of ASD.

Diagnosis stability and outcome of psychotic episodes in a Romanian group of children and adolescents.

Studies on early onset schizophrenia are limited because of their low prevalence but the reported results stated that early onset is associated with a poorer outcome. The present research analyzed the stability rate of the psychotic-related disorders from childhood to adult life. The study was based on an observational, retrospective, descriptive analysis study. The subjects were selected from patients admitted to the pediatric psychiatry ward of "Alexandru Obregia" Psychiatry Hospital between 2009 and 2018 for a psychosis-related disorder, who were 18 years or older at the moment of data collection and who also had admissions into the adult's psychiatry wards of the hospital. Of the 115 subjects, 93, representing 80.87% of the total, maintained a diagnosis of psychotic spectrum disorder into adulthood. The diagnosis was maintained in 82.4% of cases with onset before 13 years old and 80.6% of cases with onset after the age of 13 years of age. Of the 42 subjects who presented affective symptoms during childhood, 71.43% also presented affective symptoms into adulthood. These findings indicate an important stability rate of psychosis from childhood and adulthood and come in accordance with the theory of overlap between psychotic and affective disorders. The results underline the importance of an accurate diagnosis of early and very early onset schizophrenia (VEOS), the need for early and multimodal intervention, but also the need for long-term management of these patients and continuing research regarding psychotic-related disorders in children and adolescents.

Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey.

There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) project. Separate survey versions were created for autistic adults, carers of autistic adults, and professionals in adult services. 2,009 persons responded to the survey and 1,085 (54%) of them completed at least one of the services sections: 469 autistic adults (65% female; 55% <35 years old), 441 carers of autistic adults (27% female; 6% <35 years old), 175 professionals in adult services (76% female; 67% in non-medical services). Top choices by autistic adults, carers or professionals for services best suiting their current needs were: residential services: "help in own home" (adults, carers of high independent adults, professionals), "fulltime residential facility" (carers of low independent adults); employment services: "job mentors" (adults, carers of high independent adults, professionals), "Sheltered employment" (carers of low independent adults); education services: "support in regular education setting" (all groups); financial services: financial support in lieu of employment ("Supplementary income for persons unable to have full employment" for adults, "full pension" for carers of low independent adults) or to supplement employment earnings for carers of high independent adults and professionals; social services: "behavior training" (adults) and "life skills training" (carers and professionals). Waiting times for specific services were generally < 1 month or 1-3 months, except for residential services which could be up to 6 months; most professionals were uninformed of waiting times (>50% responded "don't know"). Five of seven residential services features recommended for autistic adults were experienced by <50% of adults. The knowledge of good local services models that work well for autistic adults was generally low across all services areas. The variation in services experiences and perceptions reported by autistic adults, carers, or professionals underscore the need to query all groups for a complete picture of community services availability and needs. The results showed areas for potential improvement in autistic adult services delivery in the EU to achieve recommended standards.

Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study.

LAY ABSTRACT: Professional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In this study, we analyzed the views of 1342 family members, including 1278 parents, who completed an online survey form collecting information about their experience and satisfaction with the early detection of autism in their child. Specifically, we were interested in how specific experiences with the detection process relate to the satisfaction with it and whether we could identify important predictors of satisfaction. The detection process is an emotionally charged period for parents, often described as painful, chaotic, and lengthy. A better understanding of their experiences is important to take appropriate action to improve the detection process. In our sample, the level of satisfaction with the detection process varied greatly from one respondent to another. Among the different experiences we considered, whether or not respondents received professional guidance and support in response to first concerns explained most of this variation. We also found that difficulty finding information about detection services, lack of professional guidance and support in response to first concerns, having to find a diagnostic service on one's own, and longer delays between confirmation of concerns and first appointment with a specialist were experiences associated with a greater likelihood of being unsatisfied. The findings of this study highlight the importance of the parent-professional relationship in the detection process and have important practical implications for health administrations to improve the detection process.

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.

Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests. Most of the patients had epileptic seizures, often difficult to control with one antiepileptic drug; another frequent characteristic in the cohort was developmental delay or intellectual disability, in some cases associated with behavioral problems. The genomic studies revealed an interstitial 22q11.2 microduplication, an anomaly not reported previously in heterotopia patients. Comparing the cohort of the present study with that of a previous series of heterotopia patients, both adult and pediatric, similar aspects, such as the high frequency of drug-resistant epilepsy were observed as well as some differences, such as no systemic malformations and no cases with fatal evolution. The current findings add new data to existing knowledge on a rare heterogeneous disorder. The detailed clinical description, including the epilepsy phenotypes, and genomic profiles bring new insights into a group of disorders, yet to be fully understood.

Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences.

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.

Magnetic resonance imaging of brain anomalies in adult and pediatric schizophrenia patients: Experience of a Romanian tertiary hospital.

Schizophrenia is a severe mental illness with a significant impact on the life of both the patient and the patient's family. Magnetic resonance imaging has proven a useful tool for studying structural changes of the brain in schizophrenia. However, interpreting the published literature presents several challenges. Despite thorough research in recent years, which has included anatomopathological, imaging, electrophysiological, and genetic studies, the intimate pathophysiological mechanisms of this disease are not yet fully elucidated. The present study included patients with schizophrenia diagnosed in the psychiatric clinics from the 'Prof. Dr. Alexandru Obregia' Clinical Psychiatry Hospital between September 2019 and December 2020. Three Tesla magnetic resonance neuroimaging studies were performed. In a significant number of cases, the neuroimaging studies showed association of cerebral modifications such as enlargement of the Virchow spaces, lesions of the white matter with demyelinating appearance, and inflammatory sinus reactions. Cortical atrophy and hemosiderotic spots were present in a statistically significant proportion in the patient group with an age range of 29-61 years. MRI is indicated as a useful technique in the follow-up process of schizophrenia patients. However, whether the anomalies revealed in this disorder can be utilised as diagnostic biomarkers is still being debated.

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.

Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, autism spectrum disorders (ASD), attention-deficit hyperactivity disorder, and schizophrenia. The smallest region of overlap for 15q13.3 duplications encompasses the Cholinergic Receptor Nicotinic Alpha 7 Subunit (CHRNA7) gene, a strong candidate for the behavioral abnormalities. We report on a series of five patients with 15q13.3 duplications detected by chromosomal microarray. The size of the duplications ranged from 378 to 537 kb, and involved the CHRNA7 gene in all patients. The most common clinical features, present in all patients, were speech delay, autistic behavior, and muscle hypotonia; DD/ID was present in three patients. One patient presented epileptic seizures; EEG anomalies were observed in three patients. No consistent dysmorphic features were noted. Neuroimaging studies revealed anomalies in two patients: Dandy-Walker malformation and a right temporal cyst. 15q13.3 duplications are associated with various neuropsychiatric features, including speech delay, hypotonia, ASD, and ID, also present in our patient group. Our study brings detailed clinical and molecular data from five ASD patients with 15q13.3 microduplications involving the CHRNA7 gene, contributing to the existing knowledge about the association of 15q13.3 duplications with neuropsychiatric phenotypes.

Current advances in metabolomic studies on non-motor psychiatric manifestations of Parkinson's disease (Review).

Life expectancy has increased worldwide and, along with it, a greater prevalence of age-dependent disorders, chronic illnesses and comorbidities can be observed. In 2019, in both Europe and the Americas, dementias ranked 3rd among the top 10 causes of death. Parkinson's disease (PD) is the second most frequent type of neurodegenerative disease. In the last decades, globally, the number of people suffering from PD has more than doubled to over 6 million. Of all the neurological disorders, PD increased with the fastest rate. This troubling trend highlights the stringent need for accurate diagnostic biomarkers, especially in the early stages of the disease and to evaluate treatment response. To gain a broad and complex understanding of the recent advances in the '-omics' research fields, electronic databases such as PubMed, Google Academic, and Science Direct were searched for publications regarding metabolomic studies on PD to identify specific biomarkers for PD, and especially PD with associated psychiatric symptomatology. Discoveries in the fields of metagenomics, transcriptomics and proteomics, may lead to an improved comprehension of the metabolic pathways involved in disease etiology and progression and contribute to the discovery of novel therapeutic targets for effective treatment options.

Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project.

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed about whether certain co-occurring conditions were more frequent in autistic adults than typical adults-especially some medical conditions, suicide attempts, accidents, and pain. A minority of autistic adults reported preventive health behaviors such as routine health check-ups. The majority of users and providers expressed the desire to make health care services more user-friendly for autistic adults. Among the three groups, <20% of responders knew an organization or clinician which has developed a way to monitor health, and prevent poor health, that works well for adults on the autism spectrum. The results point to means for better management of co-occurring conditions associated with autism in adulthood in order to reduce hospital admissions and potential areas of improvement in health and social services for autistic adults. Specifically, efforts should be focused on (1) professionals' education on risks for co-occurring conditions in autistic adults; (2) promoting preventive health behaviors; (3) making services user-friendly for autistic adults and their families; and (4) encouraging knowledge of good local services.

Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Pallister-Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Features not yet or rarely reported in PKS literature include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. After performing different combinations of tests, we conclude that MLPA (follow-up kit P230-B1) or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis in PKS and we recommend either one as a first intention diagnostic test. In cases without major defects associated (suspicion trisomy 12p), subtelomeric MLPA should be performed first.

Magnetic resonance imaging in schizophrenia: Luxury or necessity? (Review).

Schizophrenia, one of the most common psychiatric disorders, with a worldwide annual incidence rate of approximately 0.3-0.7%, known to affect the population below 25 years of age, is persistent throughout lifetime and includes people from all layers of society. With recent technological progress that allows better imaging techniques, such as the ones provided by computed tomography and particularly magnetic resonance imaging (MRI), research on schizophrenia imaging has grown considerably. The purpose of this review is to establish the importance of using imaging techniques in the early detection of brain abnormalities in patients diagnosed with schizophrenia. We reviewed all articles which reported on MRI imaging in schizophrenia. In order to do this, we used the PubMed database, using as search words 'MRI' and 'schizophrenia'. MRI studies of first episode patients and chronic patients, suggest reduction of the whole brain volume. Enlargement of lateral ventricles was described as positive in 15 studies out of 19 and was similar to findings in chronic patients. Moreover, for the first episode patients, all data collected point to important changes in medial temporal lobe structures, diminished hippocampal volume, the whole frontal lobe, asymmetry in prefrontal cortex, diminished volume in cingulate, corpus callosum, and cavum septum pellucidum reported abnormalities. MRI is recommended as an important tool in the follow-up process of patients with schizophrenia. Yet, it is still under debate whether the abnormalities described in this condition are able to be used as diagnostic biomarkers.

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.

Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.

Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU Study.

Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and post-diagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, < 2% of adults or carers, and < 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals.