RESUMO
Anorexia nervosa (AN) is an eating disorder (ED) that has seen an increase in its incidence in the last thirty years. Compared to other psychosomatic disorders, ED can be responsible for many major medical complications, moreover, in addition to the various systemic impairments, patients with AN undergo morphological and physiological changes affecting the cerebral cortex. Through immunohistochemical studies on portions of postmortem human brain of people affected by AN and healthy individuals, and western blot studies on leucocytes of young patients and healthy controls, this study investigated the role in the afore-mentioned processes of altered redox state. The results showed that the brain volume reduction in AN could be due to an increase in the rate of cell death, mainly by apoptosis, in which mitochondria, main cellular organelles affected by a decreased dietary intake, and a highly compromised intracellular redox balance, may play a pivotal role.
Assuntos
Anorexia Nervosa , Encéfalo , Estresse Oxidativo , Humanos , Anorexia Nervosa/metabolismo , Anorexia Nervosa/patologia , Estresse Oxidativo/fisiologia , Encéfalo/metabolismo , Encéfalo/patologia , Feminino , Adulto , Adulto Jovem , Adolescente , Apoptose/fisiologiaRESUMO
Accurate prognostication of individuals at clinical high-risk for psychosis (CHR-P) is an essential initial step for effective primary indicated prevention. We aimed to summarise the prognostic accuracy and clinical utility of CHR-P assessments for primary indicated psychosis prevention. Web of Knowledge databases were searched until 1st January 2022 for longitudinal studies following-up individuals undergoing a psychometric or diagnostic CHR-P assessment, reporting transition to psychotic disorders in both those who meet CHR-P criteria (CHR-P + ) or not (CHR-P-). Prognostic accuracy meta-analysis was conducted following relevant guidelines. Primary outcome was prognostic accuracy, indexed by area-under-the-curve (AUC), sensitivity and specificity, estimated by the number of true positives, false positives, false negatives and true negatives at the longest available follow-up time. Clinical utility analyses included: likelihood ratios, Fagan's nomogram, and population-level preventive capacity (Population Attributable Fraction, PAF). A total of 22 studies (n = 4 966, 47.5% female, age range 12-40) were included. There were not enough meta-analysable studies on CHR-P diagnostic criteria (DSM-5 Attenuated Psychosis Syndrome) or non-clinical samples. Prognostic accuracy of CHR-P psychometric instruments in clinical samples (individuals referred to CHR-P services or diagnosed with 22q.11.2 deletion syndrome) was excellent: AUC = 0.85 (95% CI: 0.81-0.88) at a mean follow-up time of 34 months. This result was driven by outstanding sensitivity (0.93, 95% CI: 0.87-0.96) and poor specificity (0.58, 95% CI: 0.50-0.66). Being CHR-P + was associated with a small likelihood ratio LR + (2.17, 95% CI: 1.81-2.60) for developing psychosis. Being CHR-P- was associated with a large LR- (0.11, 95%CI: 0.06-0.21) for developing psychosis. Fagan's nomogram indicated a low positive (0.0017%) and negative (0.0001%) post-test risk in non-clinical general population samples. The PAF of the CHR-P state is 10.9% (95% CI: 4.1-25.5%). These findings consolidate the use of psychometric instruments for CHR-P in clinical samples for primary indicated prevention of psychosis. Future research should improve the ability to rule in psychosis risk.
Assuntos
Transtornos Psicóticos , Humanos , Feminino , Criança , Adolescente , Adulto Jovem , Adulto , Masculino , Psicometria , Prognóstico , Transtornos Psicóticos/diagnóstico , Sensibilidade e Especificidade , Manual Diagnóstico e Estatístico de Transtornos MentaisRESUMO
Autism spectrum disorders (ASD) can present with different onset and timing of symptom development; children may manifest symptoms early in their first year of life, i.e., early onset (EO-ASD), or may lose already achieved skills during their second year of life, thus showing a regressive-type onset (RO-ASD). It is still controversial whether regression represents a neurobiological subtype of ASD, resulting from distinct genetic and environmental causes. We focused this study on the 25 kD synaptosomal-associated protein (SNAP-25) gene involved in both post-synaptic formation and adhesion and considered a key player in the pathogenesis of ASD. To this end, four single nucleotide polymorphisms (SNPs) of the SNAP-25 gene, rs363050, rs363039, rs363043, and rs1051312, already known to be involved in neurodevelopmental and psychiatric disorders, were analyzed in a cohort of 69 children with EO-ASD and 58 children with RO-ASD. Both the rs363039 G allele and GG genotype were significantly more frequently carried by patients with EO-ASD than those with RO-ASD and healthy controls (HC). On the contrary, the rs1051312 T allele and TT genotype were more frequent in individuals with RO-ASD than those with EO-ASD and HC. Thus, two different SNAP-25 alleles/genotypes seem to discriminate between EO-ASD and RO-ASD. Notably, rs1051312 is located in the 3' untranslated region (UTR) of the gene and is the target of microRNA (miRNA) regulation, suggesting a possible epigenetic role in the onset of regressive autism. These SNPs, by discriminating two different onset patterns, may represent diagnostic biomarkers of ASD and may provide insight into the different biological mechanisms towards the development of better tailored therapeutic and rehabilitative approaches.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , MicroRNAs , Criança , Humanos , Regiões 3' não Traduzidas , Alelos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , GenótipoRESUMO
The study aims to explore the connection between the family interactive patterns, investigated with a standardized observational tool based on a recorded play session, the Lausanne Trilogue Play, and the outcome of adolescent patients with anorexia nervosa after a 6 months treatment, based on the Morgan-Russel Outcome Assessment Schedule. Seventy-two parents and adolescent daughters with anorexia nervosa, consecutively referred to an adolescent neuropsychiatric service, participated in the study and underwent an integrated model of treatment, based on constant neuropsychiatric and dietary monitoring, weekly individual psychotherapy for the daughter, and parental counselling and support. A better adolescents' functioning in family relationships, in particular in the triadic ones, at first assessment, was associated with a better outcome. Data on family interactions may help predict the most appropriate intervention for the patient and his family.
Assuntos
Anorexia Nervosa/psicologia , Anorexia Nervosa/terapia , Aconselhamento/métodos , Relações Familiares/psicologia , Pais/psicologia , Psicoterapia/métodos , Adolescente , Feminino , Humanos , Itália , Resultado do TratamentoRESUMO
Chronic daily headache is a serious disease, causing significant problems in terms of reduced quality of life and disability, with pain localized to the head (headache) occurring 15 or more days per month for more than 3 months (>180 days per year). Drugs, both used as preventive medications or as pain-killers, are insufficient for the management of these patients; a more global approach has been advocated. This paper reviews existing data concerning different psychological approaches, with a focus on adolescence. This leads to evidence still unanswered questions but also the importance to include psychological treatments in the management of this potentially disabling condition.
Assuntos
Transtornos da Cefaleia/terapia , Cefaleia/terapia , Manejo da Dor , Dor/psicologia , Qualidade de Vida , Adolescente , Animais , Transtornos da Cefaleia/psicologia , Humanos , Resultado do TratamentoRESUMO
RESEARCH PURPOSE: GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic disorder caused by a mutation in the SLC2A1 gene that limits the transport of glucose across the blood-brain barrier. Speech disorders and dysarthria are typical findings in patients with GLUT1DS, but have never been deeply phenotyped. The aim of the present study was to characterize speech abilities in a sample of patients with GLUT1DS. RESULTS: 30 patients with GLUT1DS were recruited. We reported impairments in different speech and oromotor domains: the speech was characterized by dysarthria, inaccurate articulation of consonants, abnormal nasal resonance, errors in intonation and prosody and low intelligibility. We observed difficulties in motor planning and programming. Moreover, we observed a significant difference between the dysarthric level of impairment with genotype groups. CONCLUSIONS: The presence of a speech disorder in patients with GLUT1DS represents a core feature of the syndrome. Our findings suggest that patients with GLUT1DS would benefit from a comprehensive neurocognitive assessment to detect strengths and weaknesses of the speech profile. Understanding the speech and language phenotype in GLUT1DS is critical for planning early intervention to positively influence the global development of patients with GLUT1DS.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos , Disartria , Transportador de Glucose Tipo 1 , Humanos , Disartria/etiologia , Disartria/genética , Masculino , Feminino , Criança , Pré-Escolar , Adolescente , Transportador de Glucose Tipo 1/genética , Transportador de Glucose Tipo 1/deficiência , Erros Inatos do Metabolismo dos Carboidratos/genética , Erros Inatos do Metabolismo dos Carboidratos/complicações , Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Proteínas de Transporte de Monossacarídeos/deficiência , Proteínas de Transporte de Monossacarídeos/genética , Adulto , Adulto JovemRESUMO
BACKGROUND: Alexithymia is the inability to identify and describe one's own emotions. Adolescents who suffer from Restrictive Eating Disorders (REDs) show a higher prevalence of alexithymia than the general population. METHODS: The study explored the correlation between levels of alexithymia in mothers, fathers, and adolescents affected by REDs and patients' ability to recognize their emotions. The study also aimed to evaluate if patients' emotional distress can significantly impact the severity of their disorder and functioning measured by the Clinical Global Impression Scale - Severity (CGI-S) and the Children's Global Assessment Scale (CGAS). We enrolled 67 families of adolescents affected by REDs. Parents and patients' levels of alexithymia were assessed through the Toronto Alexithymia Scale (TAS-20). Spearman's correlation shows a statistically significant correlation between mothers and patients' levels of alexithymia. RESULTS: Our findings also suggest that fathers and mothers' TAS scores correlate with each other. However, there is no statistically significant relationship between the influence of the TAS scores of fathers and sons/daughters. CONCLUSIONS: In conclusion, mothers' level of alexithymia could influence both fathers and patients' difficulty in identifying and describing their own emotions. This relationship can be investigated further when considering externally oriented thinking. However, the severity of the disease and overall functioning do not appear to be affected by patients' levels of alexithymia.
RESUMO
The quality of family interactions may be a critical factor for restrictive eating disorders (REDs). Adolescent patients with RED have interpersonal problems that can be inferred by observing their behaviours during family interactions. To date, the assessment of the association among RED severity, interpersonal problems, and patients' interactive behaviours in the family is partially explored. This cross-sectional study aimed to explore how adolescent patients' interactive behaviours observed during the Lausanne Trilogue Play-clinical version (LTPc) were associated with both RED severity and interpersonal problems. Sixty adolescent patients completed the EDI-3 questionnaire to assess RED severity using the Eating Disorder Risk Composite (EDRC) and Interpersonal Problems Composite (IPC) subscales. Moreover, patients and their parents took part in the LTPc, and patients' interactive behaviours were coded as participation, organization, focal attention, and affective contact in all the LTPc four phases. A significant association emerged between patients' interactive behaviours during the LTPc triadic phase and both EDRC and IPC. Better patients' organization and affective contact significantly correlated with lower RED severity and fewer interpersonal problems. These findings suggest that investigating the quality of family relationships and patients' interactive behaviours may contribute to better identifying adolescent patients at risk for more severe conditions.
RESUMO
Suicide is an important public health issue. To examine the differences in personality characteristics between a group of adolescents with suicidal ideation (SI) and a group with a history of suicidal attempts (SA), we conducted a cross-sectional study. We enrolled 55 adolescents (51 females; 12-18 y.o.) who presented SI and/or SA. Using the Columbia Suicide Severity Rating Scale, we divided the sample into two groups: adolescents with SI and adolescents with SA. All participants filled in the Minnesota Multiphasic Personality Inventory-Adolescent (MMPI-A). Adolescents in the SA group had greater difficulties in social relations, risky behaviors, and more intense suicidal ideation compared to those in the SI group. Adolescents in the SA group scored higher in Omission, in the Lie Scale, the Conduct Problem Scale, the Less Aspirations Scale, the Repression Scale in the MMPI-A, and item 283 of the MAST compared to the other group. The results suggest that using the MMPI-A to assess certain features (e.g., tendency to lie, repression) may be helpful in identifying young people who are at high risk of suicide. However, further research is required to determine the effectiveness of using this instrument.
RESUMO
While there is substantial agreement on the diagnostic criteria for autism spectrum disorder, it is also acknowledged that it has a broad range of clinical presentations. This can complicate the diagnostic process and aggravate the choice of the most suitable rehabilitative strategy for each child. Attentional difficulties are among the most frequently reported comorbidities in autism spectrum disorder. We investigated the role of SNAP-25 polymorphisms. Synaptosome-associated protein 25 (SNAP25) is a presynaptic membrane-binding protein; it plays a crucial role in neurotransmission and has already been studied in numerous psychiatric disorders. It was also seen to be associated with hyperactivity in children with autism spectrum disorder. We collected clinical, behavioral and neuropsychological data on 41 children with a diagnosis of autism spectrum disorder, and then genotyped them for five single-nucleotide polymorphisms of SNAP-25. Participants were divided into two groups according to the Autism Diagnostic Observation Schedule (ADOS-2) Severity Score. In the group with the highest severity score, we found significant associations of clinical data with polymorphism rs363050 (A/G): children with the GG genotype had lower total IQ, more severe autistic functioning and more attentional difficulties. Our research could be the starting point for outlining a possible endophenotype among patients with autism spectrum disorder who are clinically characterized by severe autistic functioning and significant attentional difficulties.
RESUMO
BACKGROUND: Once psychosis has set in, it is difficult for patients to achieve full recovery. Prevention of psychosis and early intervention are promising for improving the outcomes of this disorder. In the last two decades, neurocognition has been studied as a biomarker for clinical-high risk for psychosis (CHR-P). However, neurocognitive functioning has been under-investigated in adolescents. METHODS: We enrolled 116 adolescents from 12 to 17 years old (mean = 15.27, SD = 1.56; 76 females). This 3-year cohort study aimed to identify differences in neurocognitive and overall functioning in three groups of adolescent patients divided according to the semi-structured interview Comprehensive Assessment of At-Risk Mental States (CAARMS): adolescents with established psychosis, adolescents with CHR-P, and adolescents not meeting either criteria (non-CHR-P). To differentiate the profiles, clinicians administered cognitive evaluation and neuropsychological tasks. Moreover, they filled in scales to assess their global, social, and role functioning and a questionnaire to assess the severity of the disease. RESULTS: We made a between-group comparison on neurocognitive measures and found that the CHR-P and the psychosis groups differed in processing speed (TMT-A; p = .002 in BVN categorial fluency (p = .018), and Rey-Osterrieth complex figure drawing from memory task (p = .014), with psychosis group showing worse performance. No differences emerged between non-CHR-P and CHR-P (p = .014) individuals. CHR-P had better functioning than the psychosis group but worse than the non-CHR-P one. CONCLUSIONS: These results confirm that neurocognition can be a helpful biomarker in identifying specific subgroups of adolescents with emerging psychopathology and help clinicians develop stratified preventive approaches.
RESUMO
Life events (traumatic and protective) may be critical factors associated with eating disorders and their severity. To date, there is little literature concerning the role of life events in adolescence. The main goal of this study was to explore in a sample of adolescent patients with restrictive eating disorders (REDs) the presence of life events in the year before enrolment and to characterize them according to timing. Furthermore, we investigated correlations between REDs severity and the presence of life events. In total, 33 adolescents completed the EDI-3 questionnaire to assess RED severity using EDRC (Eating Disorder Risk Composite), GPMC (General Psychological Maladjustment Composite), and the Coddington Life Events Scales-Adolescent (CLES-A) questionnaires to define the presence of life events in the last year. Of these, 87.88% reported a life event in the past year. A significant association emerged between elevated clinical GPMC and the presence of traumatic events: patients who had experienced at least one traumatic life event in the year before enrolment presented higher clinically elevated GPMC compared to patients who had not. These results suggest that obtaining early information about traumatic events in clinical practice may help prevent the occurrence of new events and improve patient outcomes.
RESUMO
BACKGROUND: GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights and real-world data on rare diseases. OBJECTIVE: To describe the implementation of a national web-based registry for GLUT1-DS. METHODS: This is a retrospective and prospective, multicenter, observational registry developed in collaboration with the Italian GLUT1-DS association and based on an innovative, flexible and configurable cloud computing technology platform, structured according to the most rigorous requirements for the management of patient's sensitive data. The Glut1 Registry collects baseline and follow-up data on the patient's demographics, history, symptoms, genotype, clinical, and instrumental evaluations and therapies. RESULTS: Five Centers in Italy joined the registry, and two more Centers are currently joining. In the first two years of running, data from 67 patients (40 females and 27 males) have been collected. Age at symptom onset was within the first year of life in most (40, 60%) patients. The diagnosis was formulated in infancy in almost half of the cases (34, 51%). Symptoms at onset were mainly paroxysmal (mostly epileptic seizure and paroxysmal ocular movement disorder) or mixed paroxysmal and fixed symptoms (mostly psychomotor delay). Most patients (53, 79%) are currently under Ketogenic dietary treatments. CONCLUSIONS: We describe the principles behind the design, development, and deployment of the web-based nationwide GLUT1-DS registry. It represents a stepping stone towards a more comprehensive understanding of the disease from onset to adulthood. It also represents a virtuous model from a technical, legal, and organizational point of view, thus representing a possible paradigmatic example for other rare disease registry implementation.
Assuntos
Transportador de Glucose Tipo 1 , Doenças Raras , Feminino , Humanos , Masculino , Transportador de Glucose Tipo 1/deficiência , Itália , Estudos Prospectivos , Sistema de Registros , Estudos Retrospectivos , LactenteRESUMO
The field of child and adolescent psychiatry is receiving growing attention, although a number of local differences still exist in terms of academic curricula, board certifications and even definitions of what is to be considered part of this field or not [...].
RESUMO
Refeeding syndrome (RFS) can be a severe and life-threatening complication of anorexia nervosa (AN) associated with electrolyte abnormalities and organ damage, and occurs with the transition from a prolonged catabolic to anabolic state, particularly with an overzealous nutrient supply. There is no unequivocal definition of RFS, although hypophosphatemia is recognized as a crucial factor in its pathogenesis. RFS can be responsible for cardiovascular complications, such as heart failure, left ventricular damage, and arrhythmias, because of different potential mechanisms: electrolyte imbalances, increased retention of sodium and liquids secondary to insulin secretion, and excessive fat emulsion supplementation. We report on the case of a 13-y-old male patient with severe AN in whom a delayed and reversible myocardial dysfunction was documented during cautious nutritional replenishment, even in the absence of serum electrolyte imbalances. Seven days after the inception of integrative enteral nutrition, heart failure was unexpectedly documented as follows: reduction in fraction ejection, presence of mild bilateral perimalleolar edema, and increased n-terminal prohormone of brain natriuretic peptide. A more pronounced water restriction protocol and delayed achievement of goal feeding rate, resulting also in lower sodium intake, were implemented to reduce cardiac overload with a full resolution of the complication in approximately 2 mo. Refeeding patients with AN could be complicated by heart failure despite cautious nutritional replenishment and regardless of electrolyte imbalance, even in a later phase of recovery. Therefore, strict adherence to recommendations for nutritional replenishment and close monitoring of cardiac function should always be considered when refeeding patients with AN.
Assuntos
Anorexia Nervosa , Insuficiência Cardíaca , Hipofosfatemia , Síndrome da Realimentação , Desequilíbrio Hidroeletrolítico , Humanos , Masculino , Síndrome da Realimentação/complicações , Anorexia Nervosa/complicações , Anorexia Nervosa/terapia , Hipofosfatemia/complicações , Desequilíbrio Hidroeletrolítico/complicações , Eletrólitos , Insuficiência Cardíaca/complicaçõesRESUMO
Adolescents diagnosed with Restrictive Eating Disorders (REDs) are at risk for alexithymia. REDs patients' families show dysfunctional interactive patterns, and childhood family environment influences alexithymia development. We aimed to assess the relationship between family dysfunctional interactive patterns and patients' alexithymia in a sample of adolescents diagnosed with REDs. Forty-five patients and their parents were enrolled. They participated in the clinical version of the Lausanne Triadic Play (LTPc), a standardized observational procedure to assess family functioning. We used the self-report questionnaire Toronto Alexithymia Scale (TAS-20) to assess patients' alexithymia. The TAS-20 provides a multi-factorial measure of patients' alexithymia: Difficulty in Identifying Feelings, DIF; Difficulty in Describing Feelings, DDF; Externally-oriented Thinking, EOT) and a total (TOT) score. DDF and EOT scores were significantly higher than DIF score. Patients' families showed dysfunctional interactive patterns, with a predominance of collusive alliance. Patients from families characterized by collusive alliance had higher TOT scores compared to counterparts from families exhibiting a different interactive dysfunctional pattern. In families characterized by a collusive triadic alliance, the dysfunctional interactive pattern was linked with the risk of alexithymia in patients with REDs. Assessment of family relationships should be included in the routine consultation with adolescent patients affected by REDs.
RESUMO
The presence of a positive family relationship has been suggested as a protective factor from parental stress and from the development of full-blown psychosis. However, to date, there is limited research on family functioning in adolescents with psychosis and at clinical high risk for psychosis (CHR-P). This study is aimed at comparing family functioning and perceived stress in parents of adolescents with either CHR-P, early onset psychosis (EOP), or other psychiatric disorders (no CHR-P). As a secondary aim, it will correlate family functioning with parental perceived stress in order to find critical targets of intervention. We conducted a Reporting of Studies Conducted Using Observational Routinely-Collected Health Data (RECORD)-compliant, real-world, cross-sectional study. One-hundred and eleven adolescents aged 12-17 who access the institute of hospitalization and care with scientific character (IRCCS) Mondino Foundation Neuropsychiatric services (Pavia, Italy) between 2017 and 2020 and their parents (n = 222) were included. Sociodemographic characteristics of adolescents and their parents were collected. Family functioning was evaluated through the Family Adaptability and Cohesion Evaluation Scale-IV (FACES-IV) and the level of stress through the Perceived Stress Scale (PSS). Twenty adolescents had EOP, 38 had CHR-P, and 59 had no CHR-P. In total, 2.6% of CHR-P adolescents were adopted, 76.3% had separated-divorced parents, and 34.2% of parents had a depressive disorder. Among the FACES-IV sub-scale, maternal rigidity was progressively increased from no-CHR-P to CHR-P to EOP group, with statistical differences between EOP and the other two groups (p = 0.01). CHR-P mothers and fathers showed a high level of PSS values, without group difference. Lastly, PSS values correlated positively with the Rigidity, Disengagement, and Chaos scale of FACES-IV and negatively with the Communication scale (p < 0.05). Our results suggest that family functioning has a central role and could represent a worthwhile target of intervention for adolescents at CHR-P, leading the way to new preventive approaches.
RESUMO
[This corrects the article DOI: 10.3389/fpsyt.2022.861201.].
RESUMO
A previous study showed that about 80% of Italian adolescents reported isolated symptoms of acute or post-traumatic stress during the first lockdown in Italy. We proposed a new questionnaire to investigate the presence of symptoms related to anxiety, panic, depression, eating disorders, sleep disorders, social withdrawal, stress disorders, psychotic symptoms, anti-conservative thoughts, and self-harming acts aggravated by COVID-19 restrictions and possible differences between males and females. 500 adolescents (12-18 years) completed an online survey created using validated scales. 41% of the respondents felt more stress than during the first lockdown. 1.85% showed suprathreshold symptoms for post-traumatic stress disorder and 21% showed isolated symptoms of acute or post-traumatic stress due to the pandemic. In addition, we found psychotic symptoms (16%), panic (25% suprathreshold), anxiety (46.8% suprathreshold), depression (18.7% suprathreshold), eating-related symptoms (51%), sleep difficulties (57%), a tendency to social withdrawal after the pandemic (15%), suicidal ideation (30%), and self-harming behavior (9%). Furthermore, girls showed a more severe level of distress. The results show a high prevalence of symptoms because of the COVID-19 pandemic and confirm the need for easy access to support and treatment service to help contain the bio-psycho-social risk factors prompted by the current pandemic and promptly and effectively manage the consequences.
Assuntos
COVID-19 , Feminino , Masculino , Humanos , Adolescente , COVID-19/epidemiologia , Estudos Transversais , Pandemias , Controle de Doenças Transmissíveis , Itália/epidemiologia , Estudos de CoortesRESUMO
Autism spectrum disorders (ASD) are characterized by a wide spectrum of clinical, behavioral, and cognitive manifestations. It is, therefore, crucial to investigate possible biomarkers associated with specific ASD phenotypes. Ample literature suggests a possible role for vitamin D (VD) in influencing ASD clinical phenotypes. We analyzed three vitamin D binding protein gene (DBP) functional polymorphisms (rs2282679, rs7041, and rs4588), which are involved in the modulation of vitamin D serum concentration in 309 ASD children and 831 healthy controls. Frequency comparisons of single nucleotide polymorphisms (SNPs) alleles, genotypes, and GC isoforms (GC1f, G1s, and GC2)generated by the combination of rs7041 and rs4588 alleleswere correlated with ASD diagnostic, behavioral, and functioning scales. The GC1f isoform was significantly more frequent in ASD compared with controls (18.6% vs. 14.5% pc = 0.02). Significantly higher scores for item 15 of the Childhood Autism Rating Scale (CARS) and lower ones for the Children's Global Assessment Scale (CGAS) functioning scales were seen in ASD carrying the GC1f isoform. In GC phenotype analysis, a gradient of severity for overall CARS scores and CARS item 15 was observed, with scores decreasing according to the presence of GC1f-GC1f > GC1f-GC1s > GC1s-GC1s > GC1f-GC2 > GC2-GC2 isoforms. Similarly, lower CGAS scores were seen in carriers of the GC1f-GC1f isoform, whereas higher scores were present in those carrying GC2-GC2 (p = 0.028). This is the first study to evaluate possible relationships between GC variants and the different aspects of ASD in Italian ASD children. Results, although needing to be validated in ampler cohorts, suggest that the GC1f isoform could be a marker of severity in ASD that may be useful in establishing the intensity of therapeutic and rehabilitative protocols.