Impact of imaging magnification on colorectal surgery: a matched analysis of a single tertiary center.

BACKGROUND: Laparoscopy has been increasingly applied in colorectal surgery, and imaging systems have been improving concurrently. The present study aims to compare outcomes following colorectal surgery with the 4K and traditional high-definition (HD) video systems. METHODS: All consecutive patients undergoing laparoscopic colorectal surgery between April 2016 and June 2020 were retrospectively retrieved from a prospective institutional database. The study population was matched according to the imaging system (4K versus HD groups) through a propensity score matching (PSM) based on perioperative characteristics of 15 patients. A stratified analysis according to surgical procedures (right, left colectomy, and low anterior resection) was also performed. Primary endpoints were intraoperative blood loss and perioperative transfusions. Also, intra- and postoperative morbidity, operative time, lymph node harvest, and length of hospital stay (LOS) were investigated as secondary outcomes. RESULTS: After PSM, 225 patients were included in both 4K and HD groups. The intraoperative blood loss was significantly lower in the 4K group (p = 0.008), although no different volumes of blood transfusion were required. Postoperative complications presented in similar proportions, while significantly higher rates of abdominal collection (p = 0.045), reoperation (p = 0.005), and postoperative urinary disorders occurred in the HD group. After stratification, the right colectomy subgroup shared similar associations with the study population. LOS did not change between groups, although readmissions were significantly lower in the 4K group (p < 0.001). CONCLUSIONS: The 4K imaging system represents a technological advance providing better surgical outcomes, such as the minimization of intraoperative blood loss and postoperative morbidity.

Different renal manifestations associated with very early onset pediatric inflammatory bowel disease: case report and review of literature.

BACKGROUND: Inflammatory bowel diseases are characterized by chronic inflammation of the gastrointestinal tract. In particular, Crohn disease and ulcerative colitis represent the two most common types of clinical manifestations. Extraintestinal manifestations of inflammatory bowel diseases represent a common complications, probably reflecting the systemic inflammation. Renal involvement is reported in 4-23% of cases. However, available data are limited to few case series and retrospective analysis, therefore the real impact of renal involvement is not well defined. CASE PRESENTATION: We report the case of a 10-years old male affected by very early onset unclassified-Inflammatory bowel diseases since he was 1-year old, presenting with a flare of inflammatory bowel diseases associated with acute kidney injury due to granulomatous interstitial nephritis. Of interest, at 7-year-old, he was treated for IgA nephropathy. To our knowledge, no previous reports have described a relapse of renal manifestation in inflammatory bowel diseases, characterized by two different clinical and histological phenotypes. CONCLUSIONS: The link between the onset of kidney injuries with flares of intestinal inflammation suggest that nephritis maybe considered an extra-intestinal manifestation correlated with active inflammatory bowel disease. However, if granulomatous interstitial nephritis represents a cell-mediated hypersensitivity reaction than a true extraintestinal manifestation of inflammatory bowel diseases is still not clarified. We suggest as these renal manifestations here described may be interpreted as extraintestinal disorder and also considered as systemic signal of under treatment of the intestinal disease.

Vitality form expression in autism.

The notion of "vitality form" has been coined by Daniel Stern to describe the basic features of action, which may reflect the mood or affective state of an agent. There is general consensus that vitality forms substantiate social interactions in children as well in adults. Previous studies have explored children with Autism Spectrum Disorder (ASD)'s ability in copying and recognizing the vitality forms of actions performed by others. In this paper we investigated, for the first time, how children with ASD express different vitality forms when acting themselves. We recorded the kinematics of ASD and typically developing (TD) children while performing three different types of action with two different vitality forms. There were two conditions. In the what condition we contrasted the three different types of action performed with a same vitality form, while in the how condition we contrasted the same type of action performed with two different vitality forms. The results showed a clear difference between ASD children and TD children in the how, but not in the what, condition. Indeed, while TD children distinguished the vitality forms to be expressed by mostly varying a specific spatiotemporal parameter (i.e. movement time), no significant variation in this parameter was found in ASD children. As they are not prone to express vitality forms as neurotypical individuals do, individuals with ASD's interactions with neurotypical peers could therefore be difficult to achieve successfully, with cascading effects on their propensity to be tuned to their surrounding social world, or so we conjecture. If this conjecture would turn out to be correct, our findings could have promising implication for theoretical and clinical research in the context of ASD.

The biological underpinnings of perinatal depressive symptoms: A multi-systems approach.

BACKGROUND: Well-established evidence exists of an association between depressive symptoms and alterations in the stress and inflammatory response systems; however, the picture is far less coherent during the perinatal period. This study combines the assessment of multiple stress and inflammatory biomarkers in late pregnancy and after delivery in order to investigate cross-sectional and prospective associations with perinatal depressive symptoms. METHODS: One-hundred-ten healthy women were assessed in late pregnancy (mean gestational age=34.76; SD=1.12) and 89 were re-evaluated after delivery (mean hours after delivery=52.36; SD=19.70) for depressive and anxiety symptoms through the Edinburgh Postnatal Depression Scale and the State-Trait Anxiety Inventory. Serum Interleukin-6 (IL-6), C-Reactive Protein (CRP) and diurnal salivary cortisol levels were measured on both occasions, while diurnal salivary alpha amylase (sAA) levels were assessed in late pregnancy. RESULTS: Using Hierarchical Linear Models, higher depressive symptoms were found to be associated with higher IL-6 levels, lower morning cortisol levels and a flatter cortisol diurnal slope during pregnancy, while adjusting for potential confounders. No significant associations were found after delivery or with change in biomarker levels from pre- to post-partum. Furthermore, preliminary evidence of a positive association between inflammation and stress markers in women with higher antenatal depressive symptoms was found. LIMITATIONS: The sample was relatively small and highly selected, thus limiting generalizability of the findings. CONCLUSIONS: Results emphasize the need for an integrated multi-systems approach to the understanding of the biological underpinnings of perinatal depression and suggest that the stress-immune interactions represent a promising avenue for future endeavor.

Laser photocoagulation therapy for thyroid nodules: long-term outcome and predictors of efficacy.

PURPOSE: The aim of the present study was to retrospectively evaluate the efficacy of interstitial laser photocoagulation (ILP) ablation of thyroid nodules during a 6-year follow-up period and to identify possible predictors of the final outcome. METHODS: Forty-three outpatients (38 women) were assigned to ILP therapy. The study group included euthyroid patients with benign thyroid nodules. Thyroid size, nodule volume and features, and autoimmune test were collected at baseline. Patients underwent US control after the ILP procedure and 1 month, 6 months, 12 months later and then annually. RESULTS: During the follow-up, two distinct groups of patients emerged: the responders (N = 33) and the non-responder (N = 10) ones to ILP. In the responder group, the nodule volume significantly decreased during the follow-up, but a trend toward a slight increase in nodule volume was recorded up to the end of follow-up. No significant decrease in nodule volume was observed in the non-responder group. Neither baseline clinical nor demographic features were significantly different between responders and non-responders groups. In the whole group of patients, the energy delivered per mL of nodule tissue was significantly correlated with the percent volume decrease at the end of follow-up. CONCLUSIONS: Interstitial laser photocoagulation is a safe technique able to reduce byabout 50% the volume of benign thyroid nodules in the majority of treated patients. However, due to the great variability of results, an active follow-up is required. The only independent predictor of ILP outcome is the energy delivered per mL of nodule tissue.

Intensity modulated radiation therapy and oral mucosa sparing in Head and neck cancer patients: A systematic review on behalf of Italian Association of Radiation Oncology - Head and neck working group.

Oral mucositis is a common dose-limiting toxicity during radiotherapy with or without chemotherapy in head and neck cancer patients. This potentially severe complication globally worsens quality of life and negatively impacts local control and survival's outcomes. Several studies have been published on feasibility and/or clinical benefit of intensity modulated radiotherapy (IMRT) mucosa-sparing technique. In 2017, the Italian Association of Radiation Oncology Head and Neck Cancer Working Group organized a study group to perform a systematic review. The aim was to verify if practical indications, including dose-constraints and demonstrated clinical benefit, could be proposed for oral mucosa (OM)-sparing IMRT in order to reduce the incidence of severe acute mucositis. Although dose to OM should be reduced as much as possible without compromising target volumes coverage, it is still tricky to firmly state that OM-sparing procedure should be considered the standard of care, especially due to high subjective variability in OM contour.

Beyond the HPA-axis: Exploring maternal prenatal influences on birth outcomes and stress reactivity.

Accumulating evidence suggests that antenatal maternal stress is associated with altered behavioral and physiological outcomes in the offspring, however, whether this association is causal and the underlying biological mechanisms remain largely unknown. While the most studied mediator of maternal stress influences on the fetus has generally been cortisol, alternative novel markers of stress or inflammation warrant further consideration. The current investigation explored the influence of variations in self-reported symptoms of distress, stress hormones and inflammatory markers on infant birth outcomes and early stress regulation. The sample consisted of 104 pregnant women (mean gestational age = 34.76; SD = 1.12) and their healthy newborns. Maternal self-reported symptoms of depression and anxiety were evaluated through the Edinburgh Postnatal Depression Scale and the State-Trait Anxiety Inventory and levels of serum Interleukine-6 (IL-6), C-Reactive Protein (CRP), salivary cortisol and alpha amylase (sAA) were measured in late pregnancy. Newborns' cortisol and behavioral response to the heel-stick was assessed 48-72 hours after birth. The associations between maternal stress measures and infant birth outcomes and stress reactivity, adjusted for potential confounders, were examined through hierarchical linear regressions and hierarchical linear models. Higher maternal IL-6 levels were associated with smaller head circumference at birth, while diurnal sAA levels were positively associated with birthweight. Maternal diurnal cortisol was related to newborn's stress reactivity: a flatter infant cortisol response to the heel-stick was associated with greater maternal cortisol increases after awakening during pregnancy, while greater infant behavioural reactivity was related to a flatter maternal diurnal cortisol profile. The observational nature of these data does not allow for causal inferences but the current findings illustrate that antenatal factors related to alterations in maternal stress and immune response systems are associated with fetal growth and neonatal stress reactivity. This may have implications for later health and psychological outcomes.

The predictive value of ABCB1, ABCG2, CYP3A4/5 and CYP2D6 polymorphisms for risperidone and aripiprazole plasma concentrations and the occurrence of adverse drug reactions.

We investigated in ninety Caucasian pediatric patients the impact of the main polymorphisms occurring in CYP3A, CYP2D6, ABCB1 and ABCG2 genes on second-generation antipsychotics plasma concentrations, and their association with the occurrence of adverse drug reactions. Patients with the CA/AA ABCG2 genotype had a statistically significant lower risperidone plasma concentration/dose ratio (Ct/ds) (P-value: 0.007) and an higher estimated marginal probability of developing metabolism and nutrition disorders as compared to the ABCG2 c.421 non-CA/AA genotypes (P-value: 0.008). Multivariate analysis revealed that the ABCG2 c.421 CA/AA genotype was found associated to a higher hazard (P-value: 0.004) of developing adverse drug reactions classified as metabolism and nutrition disorders. The ABCB1 2677TT/3435TT genotype had a statistically significant lower aripiprazole Ct/ds if compared with patients with others ABCB1 genotypes (P-value: 0.026). Information obtained on ABCB1 and ABCG2 gene variants may result useful to tailor treatments with these drugs in Caucasian pediatric patients.

When one is Enough: Impaired Multisensory Integration in Cerebellar Agenesis.

In the last two decades, an intriguing shift in the understanding of the cerebellum has led to consider the nonmotor functions of this structure. Although various aspects of perceptual and sensory processing have been linked to the cerebellar activity, whether the cerebellum is essential for binding information from different sensory modalities remains uninvestigated. Multisensory integration (MSI) appears very early in the ontogenesis and is critical in several perceptual, cognitive, and social domains. For the first time, we investigated MSI in a rare case of cerebellar agenesis without any other associated brain malformations. To this aim, we measured reaction times (RTs) after the presentation of visual, auditory, and audiovisual stimuli. A group of neurotypical age-matched individuals was used as controls. Although we observed the typical advantage of the auditory modality relative to the visual modality in our patient, a clear impairment in MSI was found. Beyond the obvious prudence necessary for inferring definitive conclusions from this single-case picture, this finding is of interest in the light of reduced MSI abilities reported in several neurodevelopmental and psychiatric disorders-such as autism, dyslexia, and schizophrenia-in which the cerebellum has been implicated.

Can dietary integrators provide a clinical benefit in the treatment of functional dyspepsia? results from a prospective study with TUBES Gastro.

AIM: Given the limited efficacy of conventional medical therapy for functional dyspepsia, patients frequently seek alternative medical approaches. The use of suc h alternative therapies has dramatically increased during the last decades. The scope of this prospective study was to provide evidence of the clinical benefit of the treatment of functional dyspepsia with a dietary integrator composed by sodium alginate, sodium bicarbonate, bromelin and essential oils. METHODS: This study enrolled a total of 100 patients affected by functional dyspepsia diagnosed primarily on the basis of typical symptoms and the exclusion of non-functional gastrointestinal diseases (negative upper gastrointestinaltract endoscopy and negative for H. pylori infections, including acid-related diseases), non-gastrointestinal diseases, and psychiatric illness. All patients enrolled were categorized in two symptom-predominant subgroups: dysmotility-like dyspepsia (N.=60) and reflux-like dyspepsia (N.=40). Patients were treated with TUBES Gastro (0.80 g oral tablets bid after main meals) for 4 weeks, on top of their current treatment with proton pump inhibitors or not. Efficacy was measured by a Numerical Rating Scale (NRS) at baseline and after 14 and 28 days of treatment with TUBES Gastro while safety and tolerability were evaluated based on the adverse event reporting from the patients. RESULTS: Sixty patients were diagnosed with dysmotility-like dyspepsia and were enrolled into the study; the majority was females (68%) with a mean age of 48.5 years (19-81). The mean baseline NRS score was 5.7 (4-8). A high statistically significant reduction of the NRS score was observed at 14 and 28 days: -1.5 (-26.3%) and -3.4 (-59.6%), respectively (P<0.0001). Forty patients were diagnosed with reflux-like dyspepsia and were enrolled into the study; the majority was males (70%) with a mean age of 49.1 years (24-80). The mean baseline NRS score was 6.8 (5-9). A high statistically significant reduction of the NRS score was observed at 14 and 28 days: -2.8 (-41.2%) and -4.8 (70.6%), respectively (P<0.0001). No side effects were collected during the study duration. CONCLUSION: The data obtained from this four-week study indicate that TUBES Gastro treatment was effective and well tolerated in reducing the symptomatology of patients affected by functional dysmotility-like and reflux-like dyspepsia.

Effect of the serotonin transporter gene and of environment on the continuity of anxiety and depression traits throughout adolescence.

Aims. Many studies of various stress reactive phenotypes suggest that 5-HTTLPR short allele carriers (S-carriers) are characterised by the stable trait of negative affectivity that is converted to psychopathology only under conditions of stress. In this study, we examined the moderating role of the 5-HTTLPR on the relationship between two objective chronic risk factors, i.e. socioeconomic status (SES) and family structure, and internalising symptoms across adolescence. Methods. A multigroup path analysis was employed in a general adolescent population sample of a 5-year follow-up study. Results. Internalising problems were significantly more stable in the S-carriers. The focus on the main dimensions of internalising problems, i.e. anxiety and depression, revealed two different developmental patterns. In the S-carriers Anxiety problems seemed to be more stable and to predict a possible evolution towards the development of Depressive problems. In the long allele homozygotes (LL-subjects) the anxiety trait was significantly less stable, and, in late-adolescence, seemed to be significantly predicted by SES, suggesting a possible gene-environment interaction (G × E). Family structure seemed to play a role in a G × E perspective only until early-adolescence, while during late-adolescence SES seemed to play a pivotal role in interaction with 5-HTTLPR, with the S-allele playing a protective role. Conclusions. Future models of the developmental link between environmental adversities and internalising behaviour therefore need to consider that the effect of G × E interaction, may be associated with internalising behaviour via different mechanisms during different time frames and that shifts in the strength of this effect should be expected across development.

ERP and Adaptive Autoregressive identification with spectral power decomposition to study rapid auditory processing in infants.

The ability to process rapidly-occurring auditory stimuli plays an important role in the mechanisms of language acquisition. For this reason, the research community has begun to investigate infant auditory processing, particularly using the Event Related Potentials (ERP) technique. In this paper we approach this issue by means of time domain and time-frequency domain analysis. For the latter, we propose the use of Adaptive Autoregressive (AAR) identification with spectral power decomposition. Results show EEG delta-theta oscillation enhancement related to the processing of acoustic frequency and duration changes, suggesting that, as expected, power modulation encodes rapid auditory processing (RAP) in infants and that the time-frequency analysis method proposed is able to identify this modulation.

Backscattering differential ghost imaging in turbid media.

In this Letter we present experimental results concerning the retrieval of images of absorbing objects immersed in turbid media via differential ghost imaging (DGI) in a backscattering configuration. The method has been applied, for the first time to our knowledge, to the imaging of thin black objects located inside a turbid solution in proximity of its surface. We show that it recovers images with a contrast better than standard noncorrelated direct imaging, but equivalent to noncorrelated diffusive imaging. A simple theoretical model capable of describing the basic optics of DGI in turbid media is proposed.

Psychopathology and adversities from early- to late-adolescence: a general population follow-up study with the CBCL DSM-Oriented Scales.

Aims. Adolescence is a critical transition phase between childhood and adulthood, when the burden of mental disorder may still be prevented. The aim of this study was to evaluate the continuity and discontinuity of behavioural problems in adolescence while taking into account the multiple co-variation of psychopathological traits and the complex role of recent stressful life events (SLEs). Methods. This is a 5-year follow-up investigation of emotional and behavioural problems assessed by the newly developed Child Behavior Checklist (CBCL) DSM-Oriented Scales (DOSs) in 420 general population subjects aged 15-19 years. Results. The DOSs showed good stability, even when multiple co-variation was taken into account. Longitudinal data showed that homotypic evolution of psychopathology was to be expected in the first place. Equifinality and multifinality were also found. Oppositional Defiant Problems emerged to be polyvalent predictors of both internalizing and externalizing problems. Furthermore, Oppositional Defiant Problems predicted more SLEs, which in turn predicted more Depression, Anxiety and Oppositional Defiant Problems. Mediational analyses confirmed the role of SLEs in partially accounting for the continuity of Oppositional Defiant Problems and for the heterotypic progression towards Affective Problems. Conclusions. These data underscore early adolescence behavioural problems as an important focus for primary and secondary intervention.

Minilaparoscopic colorectal resections: technical note.

Laparoscopic colorectal resections have been shown to provide short-term advantages in terms of postoperative pain, general morbidity, recovery, and quality of life. To date, long-term results have been proved to be comparable to open surgery irrefutably only for colon cancer. Recently, new trends keep arising in the direction of minimal invasiveness to reduce surgical trauma after colorectal surgery in order to improve morbidity and cosmetic results. The few reports available in the literature on single-port technique show promising results. Natural orifices endoscopic techniques still have very limited application. We focused our efforts in standardising a minilaparoscopic technique (using 3 to 5 mm instruments) for colorectal resections since it can provide excellent cosmetic results without changing the laparoscopic approach significantly. Thus, there is no need for a new learning curve as minilaparoscopy maintains the principle of instrument triangulation. This determines an undoubted advantage in terms of feasibility and reproducibility of the procedure without increasing operative time. Some preliminary experiences confirm that minilaparoscopic colorectal surgery provides acceptable results, comparable to those reported for laparoscopic surgery with regard to operative time, morbidity, and hospital stay. Randomized controlled studies should be conducted to confirm these early encouraging results.

A combined approach to investigate the toxicity of an industrial landfill's leachate: chemical analyses, risk assessment and in vitro assays.

Solid wastes constitute an important and emerging problem. Landfills are still one of the most common ways to manage waste disposal. The risk assessment of pollutants from landfills is becoming a major environmental issue in Europe, due to the large number of sites and to the importance of groundwater protection. Furthermore, there is lack of knowledge for the environmental, ecotoxicological and toxicological characteristics of most contaminants contained into landfill leacheates. Understanding leachate composition and creating an integrated strategy for risk assessment are currently needed to correctly face the landfill issues and to make projections on the long-term impacts of a landfill, with particular attention to the estimation of possible adverse effects on human health and ecosystem. In the present study, we propose an integrated strategy to evaluate the toxicity of the leachate using chemical analyses, risk assessment guidelines and in vitro assays using the hepatoma HepG2 cells as a model. The approach was applied on a real case study: an industrial waste landfill in northern Italy for which data on the presence of leachate contaminants are available from the last 11 years. Results from our ecological risk models suggest important toxic effects on freshwater fish and small rodents, mainly due to ammonia and inorganic constituents. Our results from in vitro data show an inhibition of cell proliferation by leachate at low doses and cytotoxic effect at high doses after 48 h of exposure.

Neurology, child.

Child Neurology concerns the study of the human nervous system during its development, as it is affected by conductivity, embryology and neuro-immunological factors in developmental brain disorders, coagulation disorders and the metabolism of nervous tissue. During a neurological examination the differential diagnosis depends on the localization of the symptoms within vision, strength, coordination, reflexes and sensation. Neurological disorders of the central nervous system may represent the cause of some mental illnesses, making hard to discriminate between the field of application proper of neurology and the one of psychiatry. As suggested by Jeste et al. child neurologists may provide a substantial contribution to the investigation of neuro-behavioral disorders such as autism, in creation of neurologically based endophenotypes; the detection of early behavioral markers that precede a formal diagnosis and in the comprehension of disorders evolution through the life span.

Behavior, human.

Human behavior is the collection of actions or reactions exhibited by human beings in relation to the environment, and it can be categorized as either innate or learned. In psychology, behavior became an important construct with the advent of behaviorism, a theoretical framework that required the study of only observable facts or events which can be seen or manipulated, in response to external or internal stimuli. More recently, the Relational Frame Theory (RFT) suggests that also some psychological events such as thoughts and emotions can be explained as learned responses. In TACT project, behavior is the voluntary movement of reaching and grasping in a fixed condition.

Bowel ultrasound and mucosal healing in ulcerative colitis.

BACKGROUND AND AIM: Mucosal healing (MH) after short-term medical treatment is being considered as an important step in the therapeutic work-up of inflammatory bowel disorder (IBD) patients due to the potential prognostic role of MH in predicting disease outcome. However, IBD patients are reluctant to be re-endoscoped during follow-up; therefore, there is a need for non-invasive alternative index of MH which can replace endoscopy in clinical practice. We evaluated bowel ultrasound (US) as a surrogate of colonoscopy in a series of consecutive patients with active ulcerative colitis (UC). PATIENTS AND METHODS: 83 patients with moderate to severe UC requiring high-dose steroids were initially recruited; endoscopic severity of UC was graded 0-3 according to Baron score, and US severity was also graded 0-3 according to the colonic wall thickening and the presence of vascular signal at power Doppler. 74 patients responsive to steroids and then maintained on 5-ASA compounds were followed up with repeated colonoscopy and bowel US at 3, 9 and 15 months from entry. Concordance between clinical, endoscopic and US scores at various visits was determined by kappa statistics. Multiple unconditional logistic regression models were used to assess the predictivity of Truelove, Baron and US scores measured at 3 and 9 months on the development of a UC relapse (Baron score 2-3) at 15 months. RESULTS: An inconsistent concordance was found over time between 0 and I Baron scores and Truelove score (weighted kappa between 0.38 and 0.94), with high and consistent concordance between 0 and I Baron scores and US scores (weighted kappa between 0.76 and 0.90). On logistic regression analysis, a moderate/severe Baron score, regardless of their Truelove score, at 3 months was associated with a high risk of endoscopic activity at 15 months (OR 5.2; 95% CI: 1.6-17.6); similarly, patients with severe US scores (2-3) at 3 months had a high risk of severe endoscopic activity at 15 months (OR 9.1; 95% CI: 2.5-33.5). DISCUSSION: In expert hands bowel US may be used as a surrogate of colonoscopy in evaluating the response to high-dose steroids in severe forms of UC. US score after 3 months of steroid therapy accurately predicts clinical outcome of disease at 15 months.

The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals.

BACKGROUND: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. METHODS: In total, 56 individuals with CdLS participated in the study. During hospitalization, their mothers received a number of questionnaires to complete. The behavioural phenotype was investigated using the following scales: Developmental Behaviour Scale Primary Carer Version; Autism Behaviour Checklist; Childhood Autism Rating Scale. RESULTS: Our participants demonstrated some behavioural characteristics that are frequently associated with CdLS (hyperactivity, attention disorder, anxiety, compulsive disorders, self-injurious behaviour and autistic-like features). Our findings demonstrate the variability of behavioural characteristics in CdLS in addition to highlighting the contribution of some variables to both the CdLS behavioural profile and the developmental trajectory of the behavioural pattern. CONCLUSIONS: The behavioural characteristics identified in our sample were correlated with some clinical and functional aspects (chronological age, cognitive level and clinical phenotype). The variability of the behavioural profile in CdLS reflected the wide variability in cognitive and adaptive functioning across individuals and led us to conclude that there may be multiple behavioural phenotypes associated with the syndrome. Further comparative studies between CdLS and individuals with intellectual disability or other genetic syndromes may help to provide further understanding of the behavioural phenotype of CdLS.