Communication Intervention for Young Children with Severe Neurodevelopmental Disabilities Via Telehealth

Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments. This study examined the efficacy of parent-implemented communication assessment and intervention with remote coaching via telehealth on the acquisition of early communication skills of three young children with ASD (2) and Rett syndrome (1). Efficacy of the intervention was evaluated using single-case experimental designs. First, functional assessment was used to identify idiosyncratic/potentially communicative responses and contexts for each child. Next, parents implemented functional communication training (FCT). All of the children acquired the targeted communication responses. The findings support the efficacy of telehealth as a service delivery model to coach parents on intervention strategies for their children’s early communication skills.     

Communication intervention in Rett syndrome: A systematic review

We reviewed communication intervention studies involving people with Rett syndrome. Systematic searches of five electronic databases, selected journals, and reference lists identified nine studies meeting the inclusion criteria. These studies were evaluated in terms of: (a) participant characteristics, (b) target skills, (c) procedures, (d) main findings, and (e) certainty of evidence. Across the nine studies, intervention was provided to a total of 31 participants aged 2:7–17:0 (years:months). Communication modes included speech, gestures, communication boards, and computer-based systems. Targeted communication functions included imitative speech, requesting, naming/commenting, and various receptive language skills (e.g., respond to requests, answer questions, receptively identify symbols). Intervention approaches included early intensive behavioral intervention, systematic instruction, and music therapy. Positive outcomes were reported for 26 (84%) of the 31 participants. However, these outcomes must be interpreted with caution because the certainty of evidence was inconclusive for all but one of the studies. Due to the limited number of studies and their methodological limitations, the evidence base supporting current approaches to communication intervention for individuals with Rett syndrome remains inconclusive.     

Findings from a multidisciplinary clinical case series of females with Rett syndrome

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.     

Early communication development in children with Rett syndrome

This retrospective pilot study investigated the course of pre-linguistic and linguistic communication development in children with Rett syndrome (RS) from birth to 24 months of age. Parents of 17 children with RS completed a questionnaire based on the Clinical Linguistic Auditory Milestone Scale. No child exceeded single word use and most children had begun to regress. Pre-regression delay was in evidence along with limited intentional gestural communication as a precursor to single word use. Limited use of communicative gestures is suggested as a possible early predictor of RS pending further investigation.     

Neurophysiological responses to music and vibroacoustic stimuli in Rett syndrome

People with Rett syndrome (RTT) have severe communicative difficulties. They have as well an immature brainstem that implies dysfunction of the autonomic nervous system. Music plays an important role in their life, is often used as a motivating tool in a variety of situations and activities, and caregivers are often clear about people with RTTs favourites. The aim of this study was to investigate physiological and emotional responses related to six different musical stimuli in people with RTT. The study included 29 participants with RTT who were referred to the Swedish Rett Center for medical brainstem assessment during the period 2006–2007. 11 children with a typical developmental pattern were used as comparison. A repeated measures design was used, and physiological data were collected from a neurophysiological brainstem assessment. The continuous dependent variables measured were Cardiac Vagal Tone (CVT), Cardiac Sensitivity to Baroreflex (CSB), Mean Arterial Blood Pressure (MAP) and the Coefficient of Variation of Mean Arterial Blood Pressure (MAP-CV). These parameters were used to categorise brainstem responses as parasympathetic (calming) response, sympathetic (activating) response, arousal (alerting) response and unclear response. The results showed that all participants responded to the musical stimuli, but not always in the expected way. It was noticeable that both people with and without RTT responded with an arousal to all musical stimuli to begin with. Even though the initial expressions sometimes changed after some time due to poor control functions of their brainstem, the present results are consistent with the possibility that the RTT participants’ normal responses to music are intact. These findings may explain why music is so important for individuals with RTT throughout life.     

Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from a retrospective analysis of a video footage. Gestures were classified as deictic gestures, play schemes, and representational gestures. Results of the analysis showed that the majority of gestures observed were of deictic character. There were no gestures that could be classified as play schemes and only two (e.g., head nodding and waving bye bye) that were coded as representational or symbolic gestures. The overall repertoire of gestures, even though not necessarily delayed in it's onset, was characterized by little variability and a restricted pragmatic functionality. We conclude that the gestural abilities in girls with RTT appear to remain limited and do not constitute a compensatory mechanism for the verbal language modality.     

Ketogenic diet in Rett syndrome

Treatment of Rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with Rett syndrome who was treated with the ketogenic diet for 4 years. The diet was initiated at the age of 8 years owing to the patient's refractory epilepsy and led to a 70% reduction in seizures. Treatment with the ketogenic diet was also associated with improvements in contact and behavior. Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome. This observation demonstrates that the ketogenic diet has a positive effect on Rett syndrome.     

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome

Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12-24 months). Videotapes, obtained by parents during routine family situations and celebrations, were analyzed to identify communicative forms and functions used by these toddlers. Non-verbal communicative forms dominated over verbal-communicative forms for six of the eight identified communication functions. Although the girls used various non-verbal forms to make requests, for example, none of the individuals were observed to make choices or request information. Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life as general differences between typical development and atypical development become more obvious in RTT. These findings highlight the importance of assessing socio-communicative forms and functions at early age in children with RTT. The results suggest that speech-language functions did not appear to play a major role in the children's communicative attempts. We conclude that, even among children with the preserved speech variant, socio-communicative deficits are present before regression and persist after this period.     

Three different profiles: Early socio-communicative capacities in typical Rett syndrome,the preserved speech variant and normal development

Background and aims: This is the first study aiming to compare pre-diagnostic socio-communicative development of a female with typical Rett syndrome (RTT), a female with the preserved speech variant of RTT (PSV) and a control toddler.

Methods: We analysed 1275?min of family videos at the participants’ age between 9 and 24 months and used the Inventory of Potential Communicative Acts (IPCA) to delineate their repertoires of communicative forms and functions.

Results: The results revealed different profiles for the three different conditions. The repertoire of communicative gestures and (pre)linguistic vocalizations was most comprehensive in the control toddler, followed by the female with PSV and the female with RTT.

Conclusion: These findings contribute to the growing knowledge about early developmental abnormalities in RTT. In order to define distinctive profiles for typical and atypical RTT and evaluate their specificity, a larger body of evidence is needed.     

Disorganized rhythm and synchrony: early signs of autism and Rett syndrome

We interpret early age-related developments in intentions and socially responsive behaviour with data from home videos of infants who later develop autism or Rett syndrome. Detailed evidence is given from a micro-analytic study of videos of monozygotic twin girls at 11 months, one of whom became autistic in the second year. Changes in this twin's attention, motor tonus, initiative and emotion reduce her prospective control of movements and her anticipations in awareness compared to her sister. These changes were reflected in the child's asynchronous social behaviour, which frustrated the father's attempts to support her attempts to walk, share toys, or play a game, confusing his anticipations, and this further reduced mutual attention and joint activity. Observations of the development of girls with Rett syndrome in the first year reveal changes in motor coordination, attention and communicative initiative, indicative of a failure of intrinsic core brain regulations of neural development and conscious activity. Notwithstanding that the two conditions show clear differences in both brain growth and early development of skills and sociability, the first signs of autism and Rett syndrome have important similarities. We conclude with recommendations for an approach to early diagnosis and treatment, applicable for the whole range of developmental brain disorders, including Rett syndrome and autism, that attempts to identify residual capacities for sympathetic motivation and collaborative learning-an approach that deliberately tries to support weakened rhythmic impulses for motor, perceptual and communicative functions in the growing infant brain.     

Human immunodefciency virus-infected macrophages,gp120, and N-methyl-D- aspartate receptor-mediated new-otoxicity

Rett syndrome is a pediatric neurological disorder of unknown etiology defined by the presence of severe neurodevelopment decline, acquired microcephaly, dementia, abnormalities of movement, autistic behavior, and seizures in young female children. In this study, the neuroanatomy of 11 females with Rett syndrome and 15 age- and gender-matched control subjects ws investigated in vivo with quantitative neuroimaging techniques. Compared to control subjects, the patients with Rett syndrome were found to have significantly reduced cerebral volume; evidence of greater loss of gray matter in comparison to white matter; regional variation in cortical gray matter, with the frontal regions showing the largest decrease; and reduced volume of the caudate nucleus and midbrain, even when taking into account general reduction in the size of the brain. In addition, there was no evidence of an ongoing degenerative process in this sample of girls with Rett syndrome. The consistency of these data with results from neuropathological investigations points to the need for continued quantitative neuroimaging studies of children with this condition. In particular, research employing serial longitudinal scans of very young children manifesting early signs of the clinical syndrome holds promise for helping to elucidate the neuropathological pathways leading to the debilitating clinical manifestations of Rett syndrome.     

Rett syndrome: North American database

The International Rett Syndrome Association (IRSA) North American database is the first comprehensive compilation of information in the United States and Canada on individuals with Rett syndrome or with another diagnosis in association with MECP2 mutations. The database contains specific information by diagnosis, mutation status, and mutation type and frequency on 1928 participants. Among the 1928 participants, 85.5% were typical, 13.4% were atypical, and 1.1% had MECP2 mutations but did not have Rett syndrome. MECP2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical Rett syndrome had an MECP2 mutation, 94 of 162 (58%) with atypical Rett syndrome had a mutation, and all 21 individuals diagnosed as Not Rett syndrome had a mutation. Missense-type mutations (39.0%) were slightly more common than nonsense type (35.1%). Individual mutation frequency for the 8 common mutations varied from 11.9% for T158M to 4.4% for R106W; large deletions accounted for 6.4% and C-terminal truncations occurred in 8.8%. The remaining mutations (14.3%) occurred singly or in small numbers. This database provides a unique resource for expanding our understanding of Rett syndrome, for comparison with other national databases, and for future study including organization of clinical trials based on the expected emergence of fundamental therapies.     

Automatic cortical representation of auditory pitch changes in Rett syndrome

Background

Over the typical course of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral communication abilities. It becomes extremely difficult for clinicians and caretakers to accurately assess the level of preserved auditory functioning in these children, an issue of obvious clinical import. Non-invasive electrophysiological techniques allow for the interrogation of auditory cortical processing without the need for overt behavioral responses. In particular, the mismatch negativity (MMN) component of the auditory evoked potential (AEP) provides an excellent and robust dependent measure of change detection and auditory sensory memory. Here, we asked whether females with Rett syndrome would produce the MMN to occasional changes in pitch in a regularly occurring stream of auditory tones.

Methods

Fourteen girls with genetically confirmed Rett syndrome and 22 age-matched neurotypical controls participated (ages 3.9–21.1 years). High-density electrophysiological recordings from 64 scalp electrodes were made while participants passively listened to a regularly occurring stream of 503-Hz auditory tone pips that was occasionally (15 % of presentations) interrupted by a higher-pitched deviant tone of 996 Hz. The MMN was derived by subtracting the AEP to these deviants from the AEP produced to the standard.

Results

Despite clearly anomalous morphology and latency of the AEP to simple pure-tone inputs in Rett syndrome, the MMN response was evident in both neurotypicals and Rett patients. However, we found that the pitch-evoked MMN was both delayed and protracted in duration in Rett, pointing to slowing of auditory responsiveness.

Conclusions

The presence of the MMN in Rett patients suggests preserved abilities to process pitch changes in auditory sensory memory. This work represents a beginning step in an effort to comprehensively map the extent of auditory cortical functioning in Rett syndrome. These easily obtained objective brain measures of auditory processing have promise as biomarkers against which future therapeutic efforts can be assayed.

     

A longitudinal study of cognitive skills and communication behaviours in children with Rett syndrome

Changes in the cognitive, communicative and interactive development of a group of six girls with Rett syndrome (three younger and three older) were documented over a 3-year period. All six maintained a profound level of intellectual performance and a preintentional level of communication in which caregivers assigned meaning to the girls' limited behaviours. However, marked individual variation was noted in both cognitive and social interaction skills. The study supported the notion of an increased perception of social interactiveness by the caregivers over time. The development of means-end behaviour, in particular, seems closely linked with the measured Increase in behaviours inferred as communicative. However, the results also show that factors such as cogniiive level, physical status and educational intervention may be related to this perception.     

Autistic symptoms in Rett syndrome: the first two years according to mother reports

Eight mothers of eight young Rett syndrome girls were interviewed in respect of early symptoms in the child. A questionnaire originally developed to tap early symptoms in infantile autism was used. Considerable overlap between early symptoms in Rett syndrome and infantile autism was seen, although clear differentiating features might be present already in the first few years of life.     

Cerebrolysin therapy in Rett syndrome: clinical and EEG mapping study

Based on the suggestion that nerve growth factor plays a core role in the brain maturation process, which is altered in Rett syndrome, we investigate the influence of Cerebrolysin — the brain-derived peptidergic drug — on motor and higher cortical functions in Rett syndrome girls. The open pilot study was performed on nine Rett syndrome girls (aged from 2 years and 2 months to 7 years and 6 months) at stage 3 of the illness, and included both clinical and quantitative EEG evaluations before and after Cerebrolysin treatment. After Cerebrolysin treatment, increases in the behavioral activity, attention level, motor functions, and non-verbal social communication have been shown in Rett syndrome patients. EEG parameters after Cerebrolysin treatment also changed towards normal values, indicating an improvement of the brain functional state. EEG changes included: decrease of theta activity over all cortical regions, increase of beta activity in the frequency band 13–15 Hz, and some restoration of the occipital alpha rhythm (in the narrow 8–9 Hz band). The data obtained suggested possible perspectives of Cerebrolysin in complex therapy of Rett syndrome.     

Behavioral observations concerning differential diagnosis between the Rett syndrome and autism

The behavior of girls with the Rett syndrome was compared to that of patients with infantile autism (Kanner syndrome) and with autism associated with infantile organic brain damage. Visual, acoustic, tactile and gustatory stimuli, and social contact were used. Motor stereotypes and disturbances were recorded and the mental development was categorized. Behavioral traits were classified into 4 groups: Behavior observed only in the Rett syndrome (at least optionally), Behavior observed in each case of the Rett syndrome (at most optionally in the autistic syndrome), Behavior observed only in the autistic syndrome (at least optionally), Behavior observed in each case of the autistic syndrome (at most optionally in the Rett syndrome). These traits were adequate criteria for differential diagnosis. It was concluded that the Rett syndrome is characterized by definite signs of dementia with almost overall developmental retardation and that it does not show several attributes regularly found in autistic children. A neuropsychological theory was proposed to explain the coming about of specific autistic behavior.