Maria Antonella Costantino

Burden of psychiatric disorders in the pediatric population

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 living in the Lombardy Region, Italy. A youth was defined as a case if during 2008 he/she received at least one psychotropic drug prescription or was hospitalized for a psychiatric disorder (International Classification of Disease codes 290-319), or attended a child neuropsychiatric outpatient unit for a visit and/or a psychological intervention or rehabilitation at least once. Epileptic children were excluded. In all, 63,550 youths (39.3 per 1000; 95%CI 39.1-39.7‰) were identified as users of health care resources for a putative mental disorder. The prevalence was higher in boys than in girls (47.0‰ versus 31.3‰) and the highest value was recorded in children 8 years old (60.2‰). A total of 59,987 youths (37.1‰) attended a child and adolescent neuropsychiatry service at least once, 3605 (2.2‰) were admitted to hospital, and 2761 (1.7‰) received at least one psychotropic drug prescription, 57% of which did not attend a child neuropsychiatry service. In all, 14,741 youths (23.1% of users) had a disorder that required a high intensity of care (e.g. recurrent prescriptions for drugs and/or ambulatory care). The proportion of youths who received care for mental disorders in the Lombardy Region seems lower than in other countries. However, the fact that many children were prescribed psychotropic drugs without the supervision of a child psychiatrist is a reason for concern.

Healthcare transition in patients with rare genetic disorders with and without developmental disability: neurofibromatosis 1 and Williams-Beuren syndrome.

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 children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family‐centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams–Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long‐term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease‐related complications.

A Scoping Review of Interventions to Supplement Spoken Communication for Children with Limited Speech or Language Skills

Background 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. Objective To systematically evaluate outcomes of AAC interventions in children with limited speech or language skills. Methods Searches were conducted (up to December 2012) in the MEDLINE, EMBASE, PsycINFO, CINAHL, DARE, and Cochrane Library databases. Furthermore, relevant journals were searched by hand. References from identified studies were examined. Only RCTs were considered. Trial quality was assessed according to a standardized and validated set of criteria. Results Fourteen of 1661 retrieved papers met inclusion criteria. A total of 666 children were included in the review and 7 papers involved only children <5 years old. Papers were of average quality and all but one had been published during the previous 10 years by one of 8 research groups, 5 of which from the United States. Seven studies directly addressed AAC use by children with different disabilities. Seven studies enrolled typically developing children: 5 evaluated the use of AAC technologies by children without disabilities in order to obtain results that could be used to improve interventions in peers with disabilities, and 2 evaluated peers’ attitudes towards children who used AAC. Both interventions and outcome measures varied widely between studies. Overall findings demonstrate the effectiveness of the AAC interventions considered, but the focus on RCTs alone appears too restrictive. Conclusions Solid evidence of the positive effects of AAC interventions in children with severe communication disorders must be generated, and different methods are needed besides RCTs. Moreover, it is important that knowledge, research, and debate extend to the medical community in order to ensure clinically effective AAC provision for these children (and their parents).

Transition to Adult Mental Health Services for Young People With ADHD.

Objective: To investigate the care management and continuity from child to adult mental health service for young adults with ADHD. Method: 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 adulthood. Results: Twenty-eight percent of RAPC had transition protocols and 3% of the population annually served were potential referrals to adult service. Of 52 patients who turned 18 years, just over 70% were monitored by the general practitioner, of those 5 with RAPC support. One fifth of patients continued to use mental health services, the majority was still monitored by the RAPC, and only three by services for adult. Conclusion: Managing the process of transition to adult services in mental health care remains a need to be prioritized and better defined for ADHD patients.

Electroclinical phenotype in Rubinstein-Taybi syndrome.

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 dated. The aim of this study is to describe the electroclinical phenotype of twenty-three patients with RSTS, and to try to correlate electroclinical features with neuroradiological, cognitive and genetic features. PATIENTS AND METHODS Electroclinical features of twenty-three patients with RSTS (age between18months and 20years) were analyzed. Sleep and awake EEG was performed in twenty-one patients, and brain MRI in nineteen patients. All subjects received cognitive evaluation. RESULTS EEG abnormalities were observed in 76% (16/21) of patients. A peculiar pattern prevalent in sleep, characterized by slow monomorphic activity on posterior regions was also observed in 33% (7/21) of patients. Almost no patient presented seizures. Eighty-four percentage of patients had brain MRI abnormalities, involving corpus callosum and/or posterior periventricular white matter. Average General Quotient (GQ) was 52, while average IQ was 55, corresponding to mild Intellectual Disability. The homogeneous electroclinical pattern was observed mainly in patients with more severe neuroradiologic findings and moderate Intellectual Disability/Developmental Disability (ID/DD). No genotype-phenotype correlations were found. CONCLUSION The specific electroclinical and neuroradiological features described may be part of a characteristic RSTS phenotype. Wider and longitudinal studies are needed to verify its significance and impact on diagnosis, prognosis and clinical management of RSTS patients.

Microdeletion 2q23.3q24.1: Exploring genotype-phenotype correlations

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 developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.