Maria Antonella Costantino

Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico | Policlinico Maggiore · Child Neuropsychiatry

Background Maternal input plays an important role in influencing linguistic development during the first years of life, and it is evident that mothers adapt their language according to their child's characteristics. Recently, it was demonstrated that maternal input addressed to children with sex chromosome trisomies (SCTs) at 8 months of age is pro...

Background Supporting young ADHD patients in transition to adult services is essential. Yet, the low percentages of successful referrals and the issues reported by patients and clinicians stress the need for further attention to transitioning practices. The present study assessed the transitioning process of Attention-Deficit/Hyperactivity Disorder...

Background and objective: The recent notable increase in refugees' flows, with refugee children and adolescents relocating worldwide, posed severe challenges to the different national healthcare systems. Social groups such as refugees fleeing from their countries because of persecution, wars and violence are considered at high risk of developing m...

Background: Methylphenidate is the most frequently prescribed medication for the treatment of ADHD in children and adolescents in many countries. Although many randomised controlled trials support short-term efficacy, tolerability, and safety, data on long-term safety and tolerability are scarce. The aim of this study was to investigate the safety...

Background Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/N...

Purpose This study aimed to describe speech sound development in a group of 18-month-old children with sex chromosome trisomies (SCTs), compared with a group of typically developing (TD) peers. Concurrent and longitudinal relationships between speech sound abilities and lexical development were examined. Method A group of 76 children aged 18 month...

Background The neuropsychological profile of children with sex chromosome trisomies [SCTs] is frequently characterised by delays and impairments in language development. However, no studies so far have specifically investigated their narrative competence. Aims The aim of the study was to analyse the oral narrative competence of preschool children...

Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome (RSTS). However, previous research relied on a cross-sectional study design turning into age-related comparisons of different syndromic cohorts to explore age-dependent changes. We aim to outline...

Background: There is evidence that several neuropsychiatric disorders and changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome (RSTS). However, previous research entirely relied on a cross-sectional study design turning into age-related comparisons of diffe...

The neuropsychological profile associated with sex chromosome trisomies (SCT) is frequently characterised by delays or deficits in linguistic development. Although maternal input could have an important role in influencing and shaping the linguistic development of children with SCT, there is a lack of studies in the literature that have investigate...

Background and aim: There is mounting evidence highlighting that Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome’s (RSTS) behavioral phenotypes are not stable over individual developmental trajectories and that several psychiatric disorders might arise with age. Our study aims to examine the specific hallmarks of psychopathology and...

Many individual factors, such as early communicative skills, could play a role in explaining later linguistic outcomes. The detection of predictive variables is fundamental to identifying early the children who need intervention. The present study focuses on children with sex chromosome trisomies (SCTs), genetic conditions with an increased risk of...

Purpose Describing language development in children with sex chromosome trisomies (SCT) and testing the predictive value of early language measures on later outcomes. Method Thirteen children with SCT were followed longitudinally. Their developmental profile was assessed, with particular attention to language, at 2 and 4 years. The predictive valu...

Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype–phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a hi...

Objective: Children and adolescents with sex chromosome trisomies (SCTs) usually show a higher frequency of behavioral problems than typically developing (TD) children. However, little is known about the presence of behavioral issues in toddlers with SCT. This study aimed at investigating their behavioral profile in the second year of life and its...

Background: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder and its phenotype clinical expression is widely variable. Despite the growing interest on genotype-phenotype correlations and on behaviour phenotype of genetic syndromes, specific studies in CdLS cohorts evaluating the correlations between genotype and neurodevelopmental chara...

The study investigates the experience of the parents of 48 children who have prenatally diagnosed with Klinefelter syndrome [KS] using a specifically developed questionnaire. Fifty percent of the participants were satisfied with the disclosure process, particularly those who received the diagnosis by an experienced geneticist. One of the aims of ge...

Individuals with sex chromosome trisomies (SCTs) have an increased risk of language delays and impairments. However, there are only a few data relative to their language development in early childhood. The present study aimed to investigate the preverbal skills shown by a group of 8-month-old children with SCTs to assess the presence of a possible...

Usually overlooked by physicians, olfactory abnormalities are not uncommon. Olfactory malformations have recently been reported in an emerging group of genetic disorders called Mendelian Disorders of the Epigenetic Machinery (MDEM). This study aims to determine the prevalence of olfactory malformations in a heterogeneous group of subjects with MDEM...

Background Although language difficulties are one of the most distinctive characteristics of the neuropsychological profile of children with sex chromosome trisomies (SCT), the analysis of the maternal input addressed to them is a neglected topic. Aims The present study aims to analyse the lexical, morphosyntactic, and functional features of the i...

A number of worldwide studies have demonstrated that children born later in the school year are more likely to receive an ADHD diagnosis than their same school-year peers. There is, however, variation in findings between countries. We aimed to confirm whether relative age is associated with ADHD diagnosis, with or without comorbidities, and to inve...

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohe...

Although ADHD comorbidity has been widely studied, some issues remain unsolved. This multicenter observational study aims to examine comorbid psychiatric disorders in a clinical sample of newly diagnosed, treatment naïve children and adolescents with and without ADHD and, to compare treatment efficacy based on the type of comorbidity. We performed...

Rubinstein–Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and great toes are particularly distinctive. Its genetic basis is only partially known, with a detection rate o...

The main aim of this study was to estimate the costs associated with diagnostic assessment and 1-year therapy in children and adolescents enrolled in 18 ADHD reference centres. Data concerning 1887 children and adolescents from the mandatory ADHD registry database during the 2012–2014 period were analysed. The overall diagnostic and treatment costs...

Aim: The aim of this study was to evaluate the differences between teachers' knowledge about early psychosis among three different Italian cities and a UK sample. Methods: The sample consisted of 556 secondary school teachers from three different cities in Italy (Milan, Rome and Lamezia Terme) and London (UK). The research was based on the Knowl...

Objective: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurological features are scant and dat...

Italian revision of scientific evidences in diagnosis and treatment of severe personality disorders, specifically in borderline spectrum of PD. The work-group, under the sponsorship of Istituto Lombardo di Farmacovigilanza, involved several experts in adult psychiatry, developmental psychiatry, psychology and psychotherapeutics, clinical pharmacolo...

We aimed to define the sociodemographic, clinical, and prescription profiles of the participants enrolled in the Italian Lombardy ADHD Register. Data on patients evaluated by the 18 regional ADHD reference centers in the 2012 to 2013 period were analyzed. Seven hundred fifty-three of 1,150 (65%) suspected patients received a diagnosis of ADHD. In 2...

We report a case of a 13-year-old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild devel- opmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partiall...

To investigate the care management and continuity from child to adult mental health service for young adults with ADHD. A questionnaire survey from 18 Regional ADHD Pediatric Centers (RAPC) in Lombardy, Italy, was used to collect data on transition protocols and population served, and to track the pathway of care of ADHD patients once they reached...

In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previous...

Augmentative and Alternative Communication (AAC) is used for treating children with severe disorders of speech-language production and/or comprehension. Various strategies are used, but research and debate on their efficacy have remained limited to a specific area and have rarely reached the general medical community.To systematically evaluate outc...

There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of childr...

In order to estimate the burden of mental disorders in a representative Italian pediatric population, an epidemiological study was performed using three administrative databases: a drug prescription, a hospital discharge form, and an outpatient ambulatory visit database. The population target was 1,616,268 children and adolescents under 18 years li...

Oral presentation only Background: Language and speech in CDLS are generally severely affected, with a specific pattern. Only 3-4 % of children will become talkers, 40 % are late talkers, 25% are limited talkers and 30 % are non talkers. Receptive language is usually considered more adequate than expressive language, but almost no works analyze in...

Aims. Early intervention policies cover a crucial role in early onset psychosis. The present study assess awareness, specific knowledge and clinical experience of 30 primary care paediatricians and 40 general practitioners from ASL district 1 and 4, in Milan, on early onset psychosis in adolescence. ▶ Methods. A self administered interview, compose...

Resilience is a relatively new concept in mental health that represents an important area of study and research. It involves the capacity to deal with unfavourable situations and to benefit from them. The authors describe the evolution of the concept of resilience, initially involving the individual sphere and, more recently, evidence of a multidim...

The experience with "tailored" books produced for children with communication disorders is described. Some pubblic libraries have in fact created special sections for these books. Nevertheless "tailored" books adapted for children with special needs have limits due to the difficulty of their distribution and copyrights problems. A possible link wit...

More than 0.5% of children and adolescents have complex communication disabilities, which in absence of any interventions, may influence development, especially of cognitive and relational areas. It is necessary to enhance the existing communication strategies through Augmentative and Alternative Communication, in order to by pass the communication...

A modified book is a book "on measure for a specific child". It is a particularly important tool for children with complex disabilities, who without specific attentions and adaptations would not be able to have access to book-sharing. Through the experience of making modified books for individual children, it has become possible to create group "la...

More than 0.5% of children and adolescents have complex communication disabilities that, if not addressed, may influence development negatively, especially the cognitive and relational areas. It is necessary to potentiate the existing communication strategies through augmentative communication, in order to bypass the communication deficit and stimu...