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Background

Pitt–Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with pronounced impacts on physical health and everyday functioning, including severe intellectual disability, impaired communication, epilepsy, and breathing dysregulation. Despite significant clinical challenges, there is limited evidence to guide interventions for individuals with PTHS. This scoping review aimed to examine the available literature on interventions targeting challenges experienced by individuals with PTHS and to identify gaps in the current knowledge base.

Results

Sixteen peer-reviewed publications, published between 2012 and 2024, met the inclusion criteria. The majority of studies focused on medical management, predominantly addressing epilepsy and breathing abnormalities, and were pharmacological in nature. Most studies employed case report or small case series designs, and systematic outcome measurement approaches were rare. Epilepsy interventions largely reflected clinical practices in broader epilepsy populations, with common use of conventional antiseizure medications and evidence of potential benefit from newer agents in treatment-resistant cases. Non-pharmacological treatments, including vagus nerve stimulation, corpus callosotomy, ketogenic diet, and a walking-based mobility intervention, were described in only a few studies, with heterogeneous outcomes. Interventions for respiratory dysfunction, gastrointestinal symptoms, pain management, immune dysfunction, psychiatric or behavioral difficulties were limited and typically reported in individual cases. Research addressing psychosocial, behavioral, and participation-focused interventions was notably scarce, despite the broad functional impairments associated with PTHS.

Conclusions

This scoping review shows that intervention research in PTHS remains at an early stage, with an evidence base dominated by descriptive case studies and few systematic evaluations. This limits the ability to formulate robust, evidence-based treatment recommendations. There is a need for more rigorous research designs in future research, that enable causal inference and systematic outcome measurement. Moreover, future studies should broaden the scope of intervention research to include communication, behavior, participation, physical activity and quality of life, alongside medical management, to better support the complex needs of individuals with PTHS. Increased focus on family impact and long-term outcomes may further enhance understanding and care strategies for this population.

  Background

Interactive engagement, specifically attention and initiation, are considered important skills for facilitating development and learning in students with severe/profound intellectual and multiple disabilities. Prior research has suggested that music therapy and multisensory storytelling are two promising interventions for supporting interactive engagement in this population. However, there are no known/published studies that have investigated the effect of combining relevant elements from musical interaction and multisensory storytelling for this group of students. This study aims to determine the effect of a novel educational approach—MultiSensory Music Drama (MSMD)—on the interactive engagement of students with severe/profound intellectual and multiple disabilities.

Methods

A single-case experimental design, specifically an ABAB design across three participants, was used to describe the effect of MSMD on interactive engagement when compared with a control activity. School staff members' perceptions of student interactive engagement and social validity were obtained.

  Findings

Coded video observations showed significantly higher levels of interactive engagement during MSMD for all three participants when compared to the control activity. Furthermore, the ratings on the interactive engagement from school staff members improved for two of the three participants. Finally, school staff members scored the social validity and perceived educational usefulness of the MSMD as very high.

Conclusions

The findings provide initial evidence that MSMD may be effective in supporting the interactive engagement of some students with severe/profound intellectual and multiple disabilities.

Purpose of ReviewAided AAC modeling is an umbrella term for when communication partners model language on an aided AAC system to support an individual’s comprehension and/or communication development. This scoping review aims to provide an overview of aided AAC modeling studies targeting individuals with emergent communication and describing features and findings from these studies.

Recent FindingsResearch on interventions that includes aided AAC modeling is growing. Recent studies cover interventions for individuals that previously were excluded, such as individuals who use alternative access methods to select symbols.

SummaryA search yielded 29 studies that encompassed a total of 237 participants using emergent communication. Positive outcomes from the aided AAC modeling interventions were reported in the majority of the studies. In future research, a clear description of the different components of the interventions and their expected effect on the outcome may assist in comparing the effect of different types of aided AAC modeling interventions.

Purpose: To explore and describe a trained communication partner’s use of responsive strategies in dyadic interaction with adults with Rett syndrome.

Introduction: Responsive partner strategies facilitate social, communicative, and linguistic development. The common feature is that the communication partner responds contingently to the other’s focus of attention and interprets their acts as communicative. Research on responsive partner strategies that involves individuals with significant communication and motor disabilities remains sparse. The same applies to if, and how, the use of communication aids impacts on the partner’s use of responsive strategies.

Materials and methods: A therapist, trained in responsive partner strategies and aided communication interacted during 14 sessions with each of three participants. The participants were adults with Rett syndrome. A gaze-controlled device and responsive strategies were used during all sessions. The Responsive Augmentative and Alternative Communication Style scale (RAACS) was used to assess the partner’s responsiveness. RAACS consists of 11 items including ratings of to what extent the partner is being attentive to, confirms, and expands the individual’s communication. During eight of the 14 sessions, aided AAC Modelling was also used, i.e., the communication partner pointed at symbols on the gaze-controlled device while interacting. In addition to RAACS, each time the communication partner confirmed or expanded on communication when (a) the participants used the gaze-controlled device and (b) the participants did not use the gaze-controlled device was counted. Descriptive statistics were used to present the results. Non-parametric tests were used to compare means between the two conditions and between participants.

Results: Inter-rater agreement for the different RAACS items ranged from 0.73 to 0.96 and was thus found to be fair to excellent. The communication partner’s use of responsive strategies varied when communicating with different participants and the scores were higher when aided AAC modeling was used. The communication partner’s number of responses and use of responsive strategies were higher when the participants communicated through a gaze-controlled device.

Conclusion: The communication partner’s use of responsive and scaffolding strategies is not a fixed construct but varies in interactions with different non-speaking persons. The same is true whether the non-speaking person uses a gaze-controlled device with digitized speech or not.

Purpose To examine the effect of a communication intervention package on expressive communication and visual attention in individuals with Rett syndrome. Materials and methods A modified withdrawal (A-B1-A1-B2-A2) single case experimental design with a direct inter-subject replication across three participants was applied. Three women with Rett syndrome participated. The study took place over a six-week period and comprised 32 sessions with each participant. All sessions were video recorded. During the intervention the communication partner used aided language modelling on a gaze-controlled device in combination with using responsive partner strategies. Expressive communication was assessed as synthesised words per minute and unique synthesised words per minute. Visual attention was assessed as rate of focused gazes (1 s or longer) in interaction. Results An intervention effect was found on the rate of unique words for all participants. The rate of words increased for two participants when the intervention was introduced but no withdrawal effect could be seen. An intervention effect on visual attention could be seen for one participant. The intervention appeared to have social validity as reported by caregivers. Conclusion Aided language modelling (ALM), while using responsive partner strategies and a gaze-controlled device may be used with adult individuals with Rett syndrome to increase their rate of expressive communication. Detailed observational measures revealed individual learning patterns, which may provide clinically valuable insights.

This was a two-phase study that aimed to (a) develop a tool for assessing visual attention in individuals with Rett syndrome using AAC with a communication partner during naturalistic interactions in clinical settings; and (b) explore aspects of the tool's reliability, validity, and utility. The Assessment of Visual Attention in Interaction (AVAI) tool was developed to assess visual attention operationalized as focused gazes (1 s or longer) at the communication partner, an object, and a symbol set. For the study, six video-recorded interactions with nine female participants diagnosed with Rett syndrome (range: 15-52-years-old) were used to calculate intra- and inter-rater agreement, and 18 recorded interactions were analyzed to examine sensitivity to change and acceptability. There was a significant difference in the AVAI results between two conditions (with and without aided-language modeling). Inter-rater agreement ranged from moderate and strong. There was a range in scores, indicating that the AVAI could differentiate between participants. The AVAI was found to be reliable, able to detect change, and acceptable to the participants. This tool could potentially be used for evaluating interventions that utilize aided AAC.

Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with expertise in augmentative and alternative communication (AAC) as it pertains to Rett syndrome. To address this need, international consensus-based guidelines for managing the communication of individuals with Rett syndrome were developed by combining available evidence and lived experience with expert opinion. A two-phase Delphi survey was built on statements and recommendations extracted from a review of over 300 pieces of literature combined with survey responses from communication professionals and caregivers. All statements that reached a pre-determined threshold of >= 70% agreement were incorporated into guidelines that consist of 268 statements and recommendations relating to (a) rights of the individual; (b) beliefs and attitudes of communication partners; (c) professional knowledge and team work; (d) strategies to optimize engagement; (e) assessment; and (f) intervention (targets and goals, techniques), including the use of AAC. To date, this project is the largest of its kind, with 650 participants from 43 countries contributing to development of consensus-based guidelines for Rett syndrome.

Individuals with Rett syndrome need extensive support to actively participate in social interaction and to develop their communication. The overall aim of this thesis was to investigate communication intervention for individuals with Rett syndrome, especially aided symbol-based communication and partner strategies.

Study I was a cross-sectional survey exploring services provided by speech language pathologists (SLPs) in Sweden. Communication aids were often used in the intervention and were found to be useful. Few SLPs used systematic tools for assessment and evaluation and communication partners were often instructed through informal conversations.

In study II, a tool (AVAI) for assessing visual attention in interaction was developed and its psychometric properties were explored. AVAI was also used as an outcome measure in study III. In both studies, the tool was found to be reliable, able to detect change and acceptable to the participants.

In study III, a single case experimental design was applied to evaluate an intervention consisting of aided language modelling whilst using responsive partner strategies and a gaze-controlled device. The adult participants with Rett syndrome (n=3) increased their expressive communication following individual learning patterns. The intervention was appreciated by the participants’ social network.

Study IV was a case study exploring and describing a communication partner’s use of responsive and scaffolding partner strategies in interaction with individuals with Rett syndrome (n=3). The use of these strategies varied in interaction with different individuals with Rett syndrome. The communication partner responded more frequently to communication through a gaze-controlled device than unaided communication.

In conclusion, gaze-controlled devices should be considered in communication intervention with individuals with Rett syndrome. Systematic tools and procedures should be applied in interventions, which is not the case in current clinical practice. Adults with Rett syndrome are able to develop their communication which highlights the need for communication support throughout their lifetime.