Maternal input to 24-month-old children with sex chromosome trisomies.

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 prosodically and functionally different from that addressed to typically developing (TD) peers. AIMS: The study aimed at analysing maternal input at 24 months when the presence of a language delay could be more evident than during the preverbal stage. We were interested in examining if maternal input was influenced by a diagnosis of SCT (by comparing children with SCT and TD children) or by children's linguistic level (by comparing children with weak lexical ability versus children with typical lexical ability regardless of the presence of genetic diagnosis). METHODS AND PROCEDURES: Forty-four mother-child dyads in which the children had an SCT and 20 mother-child dyads in which the children were TD participated in the study. Of these 64 dyads, 23 children (21 with SCTs and two TD children) formed the group of children with weak lexical ability (children with a vocabulary size lower than 50 words at 24 months). Maternal utterances were collected during one video-recorded play session and were then coded considering both the linguistic and functional features of the input. OUTCOMES AND RESULTS: The results showed that the input addressed to 24-month-old children with SCTs is as rich and complex as that addressed to TD peers. Moreover, no significant differences in the functions expressed by maternal input were found (all ps > 0.05). Comparing the children with weak lexical ability and the children with typical lexical ability in our sample, having a poor vocabulary at 24 months of age showed a significant influence on the maternal input features: the input addressed to children with weak lexical ability was characterised by a higher presence of attention getters (U = 217.00, p = 0.007) and a lower proportion of questions (U = 236.00, p = 0.017) than that of mothers of typically-talking children. CONCLUSIONS AND IMPLICATIONS: At 24 months of age, it seems that the presence of a language delay and not belonging to the clinical group of children with SCTs influences the functional characteristics of the maternal input. It is important to support the parents of children with SCTs during the communication process and later during their child's development, leading them to observe their children's manifested skills rather than looking for possible predicted difficulties. WHAT THIS PAPER ADDS: What is already known on the subject Studies in the literature demonstrated how mothers can generally adapt their input to their child's characteristics. To our knowledge, only two recent studies analysed the maternal input addressed to children with SCT at 8 months of age, highlighting significant differences. What this paper adds to existing knowledge The maternal input addressed to children with SCT at 24 months of age is not different from that addressed to TD children. At 24 months of age, the mothers adapt their input to the verbal competence shown by their child (weak lexical ability versus typically-talking), while belonging to the clinical group does not show an influence. What are the potential or actual clinical implications of this work? All the participants of the present study received prenatal diagnosis disclosure by an expert team of professionals, and they were all involved in a longitudinal study aimed at monitoring the children's development and supporting their parents. These results show that giving clear and complete information about possible development paths to parents of children with SCTs during diagnosis disclosure is crucial. Moreover, supporting the parents during the communication process and later during their child's development is fundamental, leading them to observe their children's manifested skills rather than looking for possible predicted difficulties.

Mental Health among Italian Children and Adolescents during and after the SARS-CoV-2 Pandemic: A Professionals' Focus Group Study.

The SARS-CoV-2 pandemic had a negative impact on the mental health of children and adolescents. Eight focus groups and six individual hearings were conducted to gain insights from the perspectives of 97 Italian professionals from a variety of disciplines, including child and adolescent neuropsychiatrists, pediatricians, general practitioners, social workers, psychologists, teachers, school deans, non-governmental organizations, and a researcher. Urban and rural settings were represented. The present research has been promoted by the Italian Independent Authority for Children and Adolescents (Autorità Garante per l'Infanzia e l'Adolescenza, AGIA) in collaboration with the National Institute of Health (Istituto Superiore di Sanità, ISS) and the Ministry of Education and its scientific value has been supervised by a Scientific Committee. The results of the focus groups' discussions revealed increased vulnerability, with the onset of new mental health disorders in healthy individuals and those in a condition of disadvantage, migratory contexts, and with disabilities. The already critical pre-pandemic structural and operational issues of existing services have been exacerbated. In healthcare, the activation of telemedicine has been a great asset but at the same time has generated challenges and critical issues that are still unresolved. Professionals emphasized the need to pay special attention to planning integrated responses aimed at overcoming inequalities and fragmentation. The result of this initiative translates into a set of operational recommendations useful for guiding investments and policies directed toward the protection of the mental health of minors in the health, educational, and social spheres from the outset.

Unaccompanied foreign minors and mental health: Implementation and evaluation of the RHS-15 screening procedure for unaccompanied foreign minors.

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 mental health-related problems. Despite international and national policies legally regulating the reception process and protecting health-related rights, including the mental well-being of refugee migrants, there is a theoretical and applied need for evidence-based instruments and procedures to support mental health within this population. Recent evidence refers to the Refugee Health Screener-15 (RHS-15) as a reliable and valid instrument for the early detection of trauma-related mental health problems. In this scenario, this study aimed to test the RHS screening process within a multidisciplinary first intervention reception context for unaccompanied refugee minors. Design: The RHS-15 was administered with the support of cultural-linguistic mediators to 81 unaccompanied minor residents in a first intervention facility in Milan, Italy. This study aimed to assess psychometric characteristics, such as reliability, sensitivity and specificity feasibility and its implementation within a first intervention reception process. Results: The analysis resulted in the validation of the RHS in its 13-item format. The results highlighted and confirmed an efficient delivery, excellent reliability and a positive predictive and convergent validity of the 13-item version. Further analysis showed an excellent ability to avoid false negatives, although there was a clear tendency to identify false positives. Conclusions: The early identification of vulnerabilities among refugee minors is recommended to promote their long-term overall well-being. Integrating the screening results with additional observational elements and more specific diagnostic tools is recommended to gain a comprehensive perspective of the minors' well-being.

Speech Sound Development in 18-Month-Old Children With Sex Chromosome Trisomies.

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 months, 38 children prenatally diagnosed with SCTs (12 with XXY, 12 with XYY, and 14 with XXX) and 38 TD children, participated in the study. From video recordings of semistructured naturalistic parent-child play sessions, quantitative and qualitative measures of speech sound development were collected (e.g., the number of consonants, type and place of articulation, and syllable structures used), and group differences were observed. The relationships between the number of consonants produced and vocabulary size at 18 and 24 months were assessed. RESULTS: At 18 months, children with SCTs used a significantly lower number of consonants than TD children. Qualitatively, children with SCTs used significantly fewer articulatory complex consonants (fricative/affricates) and a more restricted inventory of syllable structures. The number of consonants used was significantly correlated with lexical development at 18 months. Moreover, in the SCTs group (but not in the TD group), the children with lower speech sound development at 18 months showed a significantly smaller vocabulary growth between 18 and 24 months than those with higher speech-sound development. CONCLUSIONS: Toddlers with SCTs showed a significantly delayed speech sound development pattern rather than an atypical one. Children with SCTs with low speech sound development also showed lower vocabulary growth between 18 and 24 months of age. These results can be clinically relevant for follow-up and treatment planning for children with SCTs.

Short report. Narrative competence in Italian preschool children with sex chromosome trisomies.

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 with SCTs due to the importance of this skill for language development and learning abilities. METHODS AND PROCEDURES: Participants were 34 Italian children with SCTs one-to-one matched by age and sex to typically developing [TD] children. A storytelling task, the Narrative Competence Task, was used to assess the macrostructural and microstructural features of the children's narratives. OUTCOMES AND RESULTS: Children with SCTs showed significantly lower scores than TD peers in all the narrative indices considered, except for mental state lexicon and story length in words. CONCLUSIONS AND IMPLICATIONS: The problems found in narrative competence confirmed the existence of difficulties in the language development of children with SCTs. Narrative difficulties could affect these children's future learning skills and academic achievements.

Language Development in the Second Year of Life: The Case of Children with Sex Chromosome Trisomies Diagnosed before Birth.

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 developing language delays or impairments. The aims are to analyse their communicative skills at 18 months of age, and identify significant predictors of their later vocabulary size. Participants were 76 18-month-old children (38 with SCTs, and 38 typically-developing (TD) children). Their communicative skills were assessed during a parent-child play session, and parents filled in a report on their vocabulary development at 18 and 24 months. Children with SCTs showed significantly poorer linguistic skills at 18 months in both preverbal (babbling and gestures) and verbal abilities. A high percentage (nearly 70%) of toddlers with SCTs were late-talking children at 24 months, and those toddlers showed a lower frequency of babbling utterances at 18 months. Early lexical skills, children's developmental quotient, and being part of the group of toddlers with SCTs were significant predictors of children's vocabulary size six months later. These variables should be considered when assessing the linguistic competence of a child with SCTs to detect possible early risk factors of future language impairment.

Language Development in Sex Chromosome Trisomies: Developmental Profiles at 2 and 4 Years of Age, and Predictive Measures.

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 value of direct (spontaneous speech analysis) and indirect (communicative development inventory) language measures at 2 on performances at 4 was tested. RESULTS: Language performances at both ages were lower than non-verbal development. At 2, more than 50% of the group produced less than 50 words. At 4, impaired performances were observed in speech sound development and expressive morpho-syntax. Direct measures of Pre-syntactic development predicted later global language outcomes and Sentence Repetition. The number of consonants used at 2 was significantly related to Nonword Repetition at 4. CONCLUSIONS: The study highlights the importance of early detection and careful follow-up for children with SCT.

Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies.

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 impact on maternal stress. METHOD: Participants were 87 children ranging in age from 18 to 26 months: 63 children with SCTs (all diagnosed prenatally) and 24 TD children. Their psychomotor and language development and their behavioral profile were assessed. In addition, the level of maternal parenting stress was evaluated. RESULTS: Both psychomotor and language development were significantly lower in children with SCTs than in TD children. Conversely, no significantly greater behavioral problems emerged in children with SCTs. However, a significantly higher level of parenting stress related to a dysfunctional interaction with the child emerged in the mothers of children with SCTs. In this population, maternal stress seemed positively related to their children's emotional problems and pervasive disorders and negatively related to their children's psychomotor and linguistic competence. CONCLUSION: Although no significant behavioral issues emerged in the second year of life, the relationships found between children's behavioral profiles and maternal parenting stress highlight the importance of prenatal counseling and support groups for parents of children with SCTs. This might help them recognize the first signs of behavioral problems and become aware of their influence on parenting stress.

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.

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 higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals.

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1.

BACKGROUND: Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. METHODS: This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3-11 years in clinical stable condition with a coded way to communicate "yes" and "no". Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. RESULTS: SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. CONCLUSIONS: Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment.

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

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. We reviewed the clinical data of 35 patients, 20 females and 15 males, with a mean age of 9.52 years (SD 4.99). All patients had a MDEM and an already available high-resolution brain MRI scan. Two experienced neuroradiologists reviewed the MR images, noting abnormalities and classifying olfactory malformations. Main findings included Corpus Callosum, Cerebellar vermis, and olfactory defects. The latter were found in 11/35 cases (31.4%), of which 7/11 had Rubinstein-Taybi syndrome (RSTS), 2/11 had CHARGE syndrome, 1/11 had Kleefstra syndrome (KLFS), and 1/11 had Weaver syndrome (WVS). The irregularities mainly concerned the olfactory bulbs and were bilateral in 9/11 patients. With over 30% of our sample having an olfactory malformation, this study reveals a possible new diagnostic marker for MDEM and links the epigenetic machinery to the development of the olfactory bulbs.

Maternal input to children with sex chromosome trisomies.

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 input addressed to children with SCT comparing them with those of the input directed to typically developing children (TD). METHODS & PROCEDURES: Participants were 38 mothers and their 8-month-old children, 19 with SCT and 19 TD children. Maternal utterances, collected during video-recorded play sessions, have been transcribed and coded. OUTCOMES & RESULTS: No significant differences between groups have been found in the lexical and syntactic characteristics of maternal input. However, considering the input functional features, the proportion of directives and questions was significantly higher in the maternal input addressed to children with SCT than in the input addressed to TD children whereas the opposite pattern was found in the proportion of affect-salient speech. CONCLUSIONS & IMPLICATIONS: The awareness of a possible delay in their children's language development could influence the way the mothers speak to them. In particular, the functional features of maternal input could be affected. Support groups for parents of children with SCT at the preverbal stage could be useful to reassure the mothers about their role in their children's language development. What this paper adds What is already known on the subject Studies in the literature identified a high percentage of language delays or impairments in children with SCT. To date, according to our knowledge, there are no studies that analyse the linguistic input addressed to these children. What this study adds The lexical and syntactic features of maternal input addressed to 8-month-old children with SCT are adequate to the children's communicative skills. However, the mothers of children with SCT seem to provide additional scaffolding in their verbal input, using a lower proportion of affect-salient speech and a higher proportion of questions. In addition, a higher proportion of directives suggests the use of a more demanding style. Clinical implications of this study The awareness of possible language delays could influence the functional features of input leading mothers to use a more supportive and demanding input. Support groups for parents of children with SCT at the preverbal stage could be useful to reassure the mothers about their role in their children's language development.

Age level vs grade level for the diagnosis of ADHD and neurodevelopmental disorders.

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 investigate whether relative age is associated with ADHD type and severity, and if this age relationship is in common with other neurodevelopmental disorder. We used the Lombardy Region's ADHD registry. Data on children aged 6 years and older from September 1, 2011 to December 31, 2017 were considered. We calculated incidence ratios to assess the inter-relations between relative age within the school year, using age at diagnosis of ADHD or of other psychiatric disorder, year of diagnosis, and total number of children born in Lombardy during the corresponding timeframe. Data on ADHD type, severity of diagnosed disorder clinical global impressions-severity scale, and repetition of a school-grade were also considered. 4081 children, 2856 of whom with ADHD, were identified. We confirmed that the cumulative incidence of ADHD diagnosis was greatest for younger children, in particular for boys, for whom the prevalence is greater. The relative age effect was not accounted for by ADHD comorbid disorders, ADHD of combined type or severity. The relative age effect was also observed for children with other neurodevelopmental disorders (without ADHD), with a similar profile as ADHD children: the incidence ratio was 1.78 (95% CI 1.07-2.97; p < 0.0247) for boys diagnosed before age ten. The findings have a potential implication for diagnostic and therapeutic practice, educational advice, and policies, besides to better plan and organize service systems and appropriately inform parents, children, and citizens.

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.

Comorbidity prevalence and treatment outcome in children and adolescents with ADHD.

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 an analysis of the medical records of patients identified from the Regional ADHD Registry database, enrolled in 18 ADHD centers in the 2011-2016 period. 1919 of 2861 subjects evaluated (67%) met the diagnostic criteria for ADHD: 650 (34%) had only ADHD, while 1269 (66%) had at least one comorbid psychiatric disorder (learning disorders, 56%; sleep disorders, 23%; oppositional defiant disorder, 20%; anxiety disorders, 12%). Patients with ADHD of combined type and with severe impairment (CGI-S ≥5) were more likely to present comorbidity. 382 of 724 (53%) followed up patients improved after 1 year of treatment. ADHD with comorbidity showed greater improvement when treated with combined interventions or methylphenidate alone. Specifically, combined treatment showed significant superiority for ADHD with learning disorders (ES 0.66) and ODD (ES 0.98), lower for ADHD with sleep or anxiety disorders. Training intervention alone showed only medium efficacy (ES 0.50) for ADHD and learning disorders. This study was the first describing comorbidity patterns of ADHD in Italy, confirming, in a multicenter clinical setting, that ADHD is more often a complex disorder. Findings highlight important diagnostic, therapeutic, and service organization aspects that should be broadly extended to ensure an appropriate and homogenous ADHD management.

Italian regional health service costs for diagnosis and 1-year treatment of ADHD in children and adolescents.

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 per patient amounts to €574 and €830, respectively. The ADHD centre, the school as sender, and the time to diagnosis constitute cost drivers. Non-pharmacological therapy resulted as being more expensive for patients concomitantly treated with drugs (€929) compared to those treated with psychological interventions alone (€590; p = 0.006). This study gives the first and reliable estimate of the costs associated with both diagnosis and treatment of ADHD in Italy. Although costs associated with mental disorders are difficult to estimate, continuing efforts are need to define costs and resources to guarantee appropriate care, also for ADHD.

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 5.4 Mb 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.

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).