Association of behavioural and social-communicative profiles in children with 16p11.2 copy number variants: a multi-site study.

BACKGROUND: Despite the established knowledge that recurrent copy number variants (CNVs) at the 16p11.2 locus BP4-BP5 confer risk for behavioural and language difficulties, limited research has been conducted on the association between behavioural and social-communicative profiles. The current study aims to further delineate the prevalence, nature and severity of, and the association between, behavioural and social-communicative features of school-aged children with 16p11.2 deletion syndrome (16p11.2DS) and 16p11.2 duplication (16p11.2Dup). METHODS: A total of 68 individuals (n = 47 16p11.2DS and n = 21 16p11.2Dup) aged 6-17 years participated. Standardised intelligence tests were administered, and behavioural and social-communicative skills were assessed by standardised questionnaires. Scores of both groups were compared with population norms and across CNVs. The influence of confounding factors was investigated, and correlation analyses were performed. RESULTS: Compared with the normative sample, children with 16p11.2DS showed high rates of social responsiveness (67%) and communicative problems (69%), while approximately half (52%) of the patients displayed behavioural problems. Children with 16p11.2Dup demonstrated even higher rates of social-communicative problems (80-90%) with statistically significantly more externalising and overall behavioural challenges (89%). In both CNV groups, there was a strong positive correlation between behavioural and social-communicative skills. CONCLUSIONS: School-aged children with 16p11.2 CNVs show high rates of behavioural, social responsiveness and communicative problems compared with the normative sample. These findings point to the high prevalence of autistic traits and diagnoses in these CNV populations. Moreover, there is a high comorbidity between behavioural and social-communicative problems. Patients with difficulties in both domains are vulnerable and need closer clinical follow-up and care.

Manual signing throughout the day: Influence from staff's sign use and type of activity.

BACKGROUND: Both individuals with intellectual disabilities (ID) and staff may be more inclined to use manual signs during formal than informal activities. In addition, the sign use of individuals with ID and staff is positively related. It is unclear if activity type and the sign use of staff interact as they shape the sign use of individuals with ID. METHODS: Through non-continuous partial interval coding, we observed frequency of manual sign usage in adults with ID during communicative activities, non-communicative activities and mealtimes in four special schools and 4-day centres. Using loglinear analysis and partial associations, we measured how sign use varied by activity between the people with ID and the staff. RESULTS: When staff used signs, clients and students did not vary their spontaneous signing rate between types of activities. When staff did not use signs, a differential influence appeared according to the type of activity: clients and students were significantly more likely to also refrain from using signs during mealtimes and leisure or work activities such as crafts (84% to 89% of the time) than during communicative activities such as signing sessions (65% of the time). CONCLUSIONS: Reluctance of staff to model sign use seemed to hinder signing implementation by the people with ID. Future studies should take into account various levels of sign prompting and increasing pragmatic functions of individuals' sign use.

Use of key word signing by staff in special schools and in day centres for adults with intellectual disabilities.

BACKGROUND: Staff may encourage individuals with intellectual disabilities to use manual signs by modelling its use, but implementing key word signing during daily activities can be demanding. METHOD: Staff's use of manual signs was observed in four special schools and four day centres for adults with intellectual disabilities during communicative group activities, non-communicative group activities and mealtimes. Using in situ partial interval coding, we measured staff's communication rate, semantic diversity of manual signs, sign reinforcement and sign imitation. With Chi-squared tests, associations were measured between these variables, the two settings and the three activity types. RESULTS: During communicative activities, staff used manual signs significantly more in adult services than special schools. During non-communicative activities and mealtimes, staff seldom used or reinforced signs. CONCLUSIONS: Staff communicated frequently but did not often model sign use during daily activities. To investigate influence from training background, further detailed measurements are warranted.

Evaluation of the language profile in children with rolandic epilepsy and developmental dysphasia: Evidence for distinct strengths and weaknesses.

Although benign, rolandic epilepsy (RE) or benign childhood epilepsy with centro-temporal spikes is often associated with language impairment. Recently, fronto-rolandic EEG abnormalities have been described in children with developmental dysphasia (DD), suggesting an interaction between language impairment and interictal epileptiform discharges. To investigate if a behavioral-linguistic continuum between RE and DD exists, a clinical prospective study was carried out to evaluate the language profile of 15 children with RE and 22 children with DD. Language skills were assessed using an extensive, standardized test battery. Language was found to be impaired in both study groups, however RE and DD were associated with distinct language impairment profiles. Children with RE had difficulties with sentence comprehension, semantic verbal fluency and auditory short-term memory, which are unrelated to age of epilepsy onset and laterality of epileptic focus. In children with DD, sentence comprehension and verbal fluency were among their relative strengths, whereas sentence and lexical production constituted relative weaknesses.

Developmental trajectories of structural and pragmatic language skills in school-aged children with Williams syndrome.

BACKGROUND: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. METHOD: Twelve monolingual Dutch-speaking children with WS aged 5.10 to 13.3 years were assessed by means of standardised structural language tests measuring receptive and expressive vocabulary and sentence comprehension and production. Pragmatic language was evaluated by means of an expressive referential communication task and a retelling test. All of these language abilities were re-evaluated with the same measures after a period of 18 to 24 months. Performance was compared to 12 children with IID pairwise matched for chronological age (CA) and non-verbal fluid reasoning (Gf) at Time 1. Non-verbal mental age (NVMA) was taken into account when delineating developmental trajectories. RESULTS: Children with WS outperformed children with IID on expressive vocabulary development. In contrast, sentence comprehension was significantly poorer than in children with IID at the second time point. Increased variability and rather poor performance on pragmatic language tasks were demonstrated in the WS group. Irrelevant and off-topic extraneous information transfer continued to be a syndrome-specific characteristic of children with WS. CONCLUSION: The data provide new insights into diverging developmental trajectories across language domains. Expressive structural language skills tend to progress more rapidly than receptive language skills in children with WS causing more distinctive language profiles over time. Some children with WS seem to benefit from the growth in expressive structural language abilities to enhance their expressive pragmatic language skills, while in some others these abilities remain challenging. This study highlights the need for continued follow-up of language challenges in WS and for a dynamic and individualised interventional approach.

Underlying neurological dysfunction in children with language, speech or learning difficulties and a verbal IQ--performance IQ discrepancy.

INTRODUCTION AND AIM: We investigated the relationship between possible underlying neurological dysfunction and a significant discrepancy between verbal IQ/performance IQ (VIQ-PIQ) in children with language, speech or learning difficulties. METHODS: In a retrospective study, we analysed data obtained from intelligence testing and neurological evaluation in 49 children with a significant VIQ-PIQ discrepancy (> or = 25 points) who were referred because of language, speech or learning difficulties to the Multidisciplinary University Centre for Logopedics and Audiology (MUCLA) of the University Hospitals of Leuven, Belgium. RESULTS: The group of children broke down into a group of 35 children with PIQ > VIQ and a group of 14 children with VIQ > PIQ. In the first group, neurological data were present for 24 children. The neurological history and clinical neurological examination were normal in all cases. Brain MRI was performed in 15 cases and proved to be normal in all children. Brain activity was assessed with long-term video EEG monitoring in ten children. In two children, the EEG results were abnormal: there was an epileptic focus in one child and a manifest alteration in the EEG typical of Landau-Kleffner syndrome in the other. In the second group of 14 children whose VIQ was higher than the PIQ, neurological data were available for ten children. Neurological history and clinical neurological examination were normal in all cases. Brain MRI was performed in five cases and was normal in all children. EEG monitoring was performed in one child. This revealed benign childhood epilepsy with centrotemporal spikes. CONCLUSIONS: In a small number of children (9%) with speech, language and learning difficulties and a discrepancy between VIQ and PIQ, an underlying neurological abnormality is present. We recommend referring children with a significant VIQ-PIQ mismatch to a paediatric neurologist. As an epileptic disorder seems to be the most common underlying neurological pathology in this specific group of children, EEG monitoring should be recommended in these children. Neuro-imaging should only be used in selected patients.

Measuring young children's language abilities.

This article deals with the new challenges put on language diagnosis, and the growing need for good diagnostic instruments for young children. Particularly for Dutch, the original English Reynell Developmental Language Scales were adapted not only to the Dutch idiom, but some general ameliorations and changes in the original scales resulted in a new instrument named the RTOS. The new instrument was standardized on a large population, and psychometrically evaluated. In communicating the experiences with such a language/cultural/psychometric adaptation, we hope that other language-minority groups will be encouraged to undertake similar adaptations.

Voice quality after narrow-margin laser cordectomy compared with laryngeal irradiation.

Voice quality remains the issue often used to support preference for radiotherapy in treatment of early glottic cancer. We therefore conducted a perceptual voice study in 2 groups, one treated with radiotherapy for malignant disease and the other with narrow-margin laser cordectomy for either malignant or extensive benign lesions. Sequential patients, 12 treated with radiotherapy and 30 with CO(2) laser excision, were included. Voice samples were recorded before and at intervals after surgery. Ratings of validated judges were used for statistical analysis of various voice characteristics at each time point. Voice deteriorated temporarily after surgery as compared with the radiated group; however, at 6 and 24 months no significant differences were found between the groups. Preferential use of narrow-margin laser cordectomy for appropriate early glottic tumors can be supported not only for oncologic reasons but also on the basis of voice results, cost, and efficiency considerations.

Prospective randomized comparative study of tracheoesophageal voice prosthesis: Blom-Singer versus Provox.

OBJECTIVES: Compare the most commonly used types of tracheoesophageal voice prostheses, Blom Singer and Provox. STUDY DESIGN: Prospective study of 113 prostheses placed in 52 patients randomly selected to receive Blom-Singer and Provox. METHODS: Postoperative voice was recorded at 1 and 4 months after valve placement. Survival time of the prosthesis and four objective voice parameters were analyzed. Eight judges rated all recordings in a random order for six subjective voice parameters. Subgroup analysis for primary versus secondary placements and type of procedure was performed. In addition, patients were asked for their subjective assessment. RESULTS: Overall, Blom-Singer and Provox prostheses give very similar voice quality, lifetime, and patient satisfaction. Cleaning management is somewhat better for Provox, but there is a trend toward better overall voice quality for the Blom-Singer prosthesis. In subgroup analysis secondarily placed prostheses score somewhat better than primary placements, and patients with total laryngectomy have better voices than patients with extended laryngectomy combined with partial pharyngectomy. CONCLUSIONS: Given the equal and good results in terms of voice quality, other factors (e.g., costs, surgery-related factors, maintenance, patient preference) should be taken into account when deciding which type of tracheoesophageal voice prosthesis to use.

[Roentgen image of the hand as a principle for age determination in adolescents]. / Das Röntgenbild der Hand als eine Grundlage der Altersschätzung bei Jugendlichen.

Determination of age can be necessary in cases of juvenile offenders. We studied the relation between the skeletal development of the hand and wrist and the age, using diagnostic methods of orthodontics. An evaluation of 1109 X-ray pictures of the hand and wrist of boys and girls with an age from 9-18 years showed that there is a stochastic correlation between age and certain stages of skeletal development. Skeletal development is influenced by sex and ethnological factors.