Considerations in deep brain stimulation (DBS) for pediatric secondary dystonia.

PURPOSE: There is a paucity of effective long-term medication treatment for secondary dystonias. In situations where significantly impairing secondary dystonias fail to respond to typical enteral medications and intrathecal (or even intraventricular) baclofen, consideration should be given to the use of deep brain stimulation (DBS). While Level I evidence and long-term follow-up clearly demonstrate the efficacy of DBS for primary dystonia, the evidence for secondary dystonia remains mixed and unclear. In this study, we report our experience with pediatric subjects who have undergone DBS for secondary dystonia. METHODS: We discuss the indications and outcomes of DBS procedures completed at our center. We also present a detailed discussion of the considerations in the management of these patients as well as a literature review. RESULTS: Of the four cases retrospectively examined here, all subjects experienced reductions in the severity of their dystonia (ranging from 0 to 100% on both the Barry-Albright Dystonia (BAD) and Burke-Fahn-Marsden Dystonia Rating Scale-Motor (BFMDRS-M) scales). CONCLUSIONS: Pallidal DBS should be considered among children with functionally debilitating, medication-resistant secondary dystonia. Patients without fixed skeletal deformities who have experienced a short duration of symptoms are most likely to benefit from this intervention.

Intellectual development before and after the onset of infantile spasms: a controlled prospective longitudinal study in tuberous sclerosis.

OBJECTIVE: Infantile spasms (IS) have long been suspected to be a risk factor for impairment in intellectual development, but there are no controlled, prospective longitudinal data in well-characterized conditions to confirm this suspicion. We tested the hypothesis in a longitudinal study of children with tuberous sclerosis (TS), who have a high risk of developing IS. METHODS: Eleven infants with TS were recruited and studied longitudinally using the Mullen Scales of Early Learning. Seizure histories were assessed using a structured parent interview and by review of medical notes. Intellectual development was examined in relation to the onset and length of exposure to IS and other types of seizures. RESULTS: Six children developed IS and five children developed other types of seizure disorders. Among those that developed IS, estimated mean IQ dropped significantly (nonparametric test for trend p = 0.002) from 92 (prior to onset of spasms) to 73 (after exposure to IS for a month or less) and 62 (after exposure to IS for more than a month). By contrast, there was no significant drop in estimated IQ among the five infants exposed to other types of seizure disorders (nonparametric test for trend p = 0.9). All six children exposed to infantile spasms developed clinically significant intellectual impairment. SIGNIFICANCE: These data provide the first clear evidence of clinically significant, dose dependent, impairment in intellectual development following exposure to infantile spasms. The mechanisms underlying this developmental impairment and methods for preventing it require in depth study.

Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.

Delineating the autistic phenotype in children with neurofibromatosis type 1.

BACKGROUND: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. METHODS: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. RESULTS: The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management.

The clinical utility of the Social Responsiveness Scale and Social Communication Questionnaire in tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is often associated with epilepsy, mental retardation, and autism spectrum disorders (ASDs). Thus, screening for ASDs is important when evaluating these individuals. We examined the utility of the Social Responsiveness Scale (SRS) and Social Communication Questionnaire (SCQ), two measures for screening for ASDs, in a TSC population. Twenty-one children were evaluated, with 52.4% classified as having ASDs on the SRS and 42.9% classified as such on the SCQ. Number of antiepileptic drugs significantly correlated with SRS Total score, as did level of intellectual functioning. Evidence for convergent validity was obtained between the SRS and SCQ Total scores (r=0.605). Moreover, all SRS subscales correlated with SCQ Total score (r>0.400). All SCQ subscales except for Communication correlated with SRS total. Overall, the results demonstrate that these questionnaires appear to be effective screens for ASDs in a TSC population and are measuring similar constructs.

Feasibility and preliminary efficacy of a parent-mediated sexual education curriculum for youth with autism spectrum disorders.

Youth with autism spectrum disorder can face social-communication challenges related to sexuality, dating, and friendships. The purpose of this study was to assess the feasibility, acceptability, and preliminary efficacy of the Supporting Teens with Autism on Relationships program. In total, 84 youth with autism spectrum disorder aged 9 to 18 and their parents participated in this study; two groups received the Supporting Teens with Autism on Relationships program (interventionist-led parent group vs parent self-guided), while an attentional control group received a substance abuse prevention program that included instruction in problem-solving and social skills. Feasibility and acceptability of the Supporting Teens with Autism on Relationships program was high overall. The Supporting Teens with Autism on Relationships program was effective in increasing parent and youth knowledge of sexuality, while the attentional control was not. There was preliminary support for improvement in parenting efficacy related to discussing sexuality with their children. Gains were seen among completers regardless of whether the parent received support from a facilitator. Implications and future directions are discussed.

LEGO therapy and the social use of language programme: an evaluation of two social skills interventions for children with high functioning autism and Asperger Syndrome.

LEGO therapy and the Social Use of Language Programme (SULP) were evaluated as social skills interventions for 6-11 year olds with high functioning autism and Asperger Syndrome. Children were matched on CA, IQ, and autistic symptoms before being randomly assigned to LEGO or SULP. Therapy occurred for 1 h/week over 18 weeks. A no-intervention control group was also assessed. Results showed that the LEGO therapy group improved more than the other groups on autism-specific social interaction scores (Gilliam Autism Rating Scale). Maladaptive behaviour decreased significantly more in the LEGO and SULP groups compared to the control group. There was a non-significant trend for SULP and LEGO groups to improve more than the no-intervention group in communication and socialisation skills.

Characterizing the factor structure of parent reported executive function in autism spectrum disorders: the impact of cognitive inflexibility.

Parents of children with autism spectrum disorders (ASD) consistently report executive functioning (EF) deficits. This study investigates the factor structure of the Behavior Rating Inventory of Executive Function (BRIEF) as reported by parents of children with ASD and typically developing children (TDC). BRIEFs for 411 children with ASD and 467 TDC were examined. Confirmatory factor analysis of a nine-factor model met thresholds for goodness-of-fit in TDC, but not in the ASD sample. We found globally elevated EF problems in the ASD sample, especially on the Shift scale. These findings confirm that children with ASD exhibit significant EF deficits. Further investigation is needed to understand the pervasive nature of cognitive inflexibility in children with ASD.

Assessment of executive functioning in childhood epilepsy: the Tower of London and BRIEF.

Children and adolescents with epilepsy are known to demonstrate executive function dysfunction, including working memory deficits and planning deficits. Accordingly, assessing specific executive function skills is important when evaluating these individuals. The present investigation examined the utility of two measures of executive functions-the Tower of London and the Behavioral Rating Inventory of Executive Functioning (BRIEF)-in a pediatric epilepsy sample. Ninety clinically referred children and adolescents with seizures were included. Both the Tower of London and BRIEF identified executive dysfunction in these individuals, but only the Tower of London variables showed significant relations with epilepsy severity variables such as age of epilepsy onset, seizure frequency, number of antiepileptic medications, etc. Further, the Tower of London and BRIEF variables were uncorrelated. Results indicate that objective measures of executive function deficits are more closely related to epilepsy severity but may not predict observable deficits, as reported by parents. Comprehensive evaluation of such deficits, therefore, should include both objective measures as well as subjective ratings from caregivers.

Emotion word comprehension from 4 to 16 years old: a developmental survey.

BACKGROUND: Whilst previous studies have examined comprehension of the emotional lexicon at different ages in typically developing children, no survey has been conducted looking at this across different ages from childhood to adolescence. PURPOSE: To report how the emotion lexicon grows with age. METHOD: Comprehension of 336 emotion words was tested in n = 377 children and adolescents, aged 4-16 years old, divided into 6 age-bands. Parents or teachers of children under 12, or adolescents themselves, were asked to indicate which words they knew the meaning of. RESULTS: Between 4 and 11 years old, the size of the emotional lexicon doubled every 2 years, but between 12 and 16 years old, developmental rate of growth of the emotional lexicon leveled off. This survey also allows emotion words to be ordered in terms of difficulty. CONCLUSIONS: Studies using emotion terms in English need to be developmentally sensitive, since during childhood there is considerable change. The absence of change after adolescence may be an artifact of the words included in this study. This normative developmental data-set for emotion vocabulary comprehension may be useful when testing for delays in this ability, as might arise for environmental or neurodevelopmental reasons.

Enhancing emotion recognition in children with autism spectrum conditions: an intervention using animated vehicles with real emotional faces.

This study evaluated The Transporters, an animated series designed to enhance emotion comprehension in children with autism spectrum conditions (ASC). n = 20 children with ASC (aged 4-7) watched The Transporters everyday for 4 weeks. Participants were tested before and after intervention on emotional vocabulary and emotion recognition at three levels of generalization. Two matched control groups of children (ASC group, n = 18 and typically developing group, n = 18) were also assessed twice without any intervention. The intervention group improved significantly more than the clinical control group on all task levels, performing comparably to typical controls at Time 2. We conclude that using The Transporters significantly improves emotion recognition in children with ASC. Future research should evaluate the series' effectiveness with lower-functioning individuals.