Profound Developmental Disabilities Research Articles

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.

The case report by Mabry et al. (1970) of a family with four children with elevated tissue non-specific alkaline phosphatase, seizures and profound developmental disability, became the basis for phenotyping children with the features that became known as Mabry syndrome. Aside from improvements in the services available to patients and families, however, the diagnosis and treatment of this, and many other developmental disabilities, did not change significantly until the advent of massively parallel sequencing. As more patients with features of the Mabry syndrome were identified, exome and genome sequencing were used to identify the glycophosphatidylinositol (GPI) biosynthesis disorders (GPIBDs) as a group of congenital disorders of glycosylation (CDG). Biallelic variants of the phosphatidylinositol glycan (PIG) biosynthesis, type V (PIGV) gene identified in Mabry syndrome became evidence of the first in a phenotypic series that is numbered HPMRS1-6 in the order of discovery. HPMRS1 [MIM: 239300] is the phenotype resulting from inheritance of biallelic PIGV variants. Similarly, HPMRS2 (MIM 614749), HPMRS5 (MIM 616025) and HPMRS6 (MIM 616809) result from disruption of the PIGO, PIGW and PIGY genes expressed in the endoplasmic reticulum. By contrast, HPMRS3 (MIM 614207) and HPMRS4 (MIM 615716) result from disruption of post attachment to proteins PGAP2 (HPMRS3) and PGAP3 (HPMRS4). The GPI biosynthesis disorders (GPIBDs) are currently numbered GPIBD1-21. Working with Dr. Mabry, in 2020, we were able to use improved laboratory diagnostics to complete the molecular diagnosis of patients he had originally described in 1970. We identified biallelic variants of the PGAP2 gene in the first reported HPMRS patients. We discuss the longevity of the Mabry syndrome index patients in the context of the utility of pyridoxine treatment of seizures and evidence for putative glycolipid storage in patients with HPMRS3. From the perspective of the laboratory innovations made that enabled the identification of the HPMRS phenotype in Dr. Mabry's patients, the need for treatment innovations that will benefit patients and families affected by developmental disabilities is clear.

Families’ perspectives on the process of community transitions of individuals with severe intellectual and developmental disabilities

ABSTRACT Background Deinstitutionalisation refers to the transition of individuals with intellectual and developmental disabilities from large institutions to smaller homes in the community. The purpose of this study was to explore how family members of persons with intellectual and developmental disabilities perceived their loved ones’ community transition process. Method Eight family members of persons with severe or profound intellectual and developmental disabilities formerly residing at the complex care facility of St.Amant participated in semi-structured interviews. Interview transcripts were analysed thematically using an iterative inductive process and constant comparative method. Results Three main themes emerged from the family members’ accounts of their loved ones’ community transitions process: 1) families’ initial reactions, 2) strengths, and 3) challenges. Conclusions Initial reactions of family members to learning about the community transitions process were varied. Family members’ perspectives inform deinstitutionalisation efforts by highlighting facilitators such as adequate involvement, and barriers such as, unanticipated delays, to the community transitions process.

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.

Pathogenic variants in CASK, an X-linked gene that plays a role in brain development and synaptic function, are the cause of both microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XLID) with or without nystagmus. MICPCH is caused by loss of function variants in CASK, typically affects females, and is associated with moderate-to-severe intellectual disability (ID). Additional findings, present in about one-third of individuals, include feeding difficulties, ophthalmologic issues, hypertonicity, epilepsy, and sensorineural hearing loss. Only a few affected males with MICPCH phenotype have been reported and most have had profound developmental disability and intractable epilepsy. The XLID phenotype is typically caused by missense variants and most often manifests in males; carrier females are mildly affected or unaffected. Nystagmus is often present. In total, over 175 patients have been reported in the literature. We now report an additional 11 patients with pathogenic variants in CASK that expand these phenotypes and reported genotype-phenotype correlations.

Cognition in Interaction: Challenges in Assessing Persons with Sensory and Multiple disabilities

This article reports a qualitative study of cognitive assessments of three teenagers with sensory and multiple disabilities, including moderate to profound developmental disability. The aim was to evaluate the possibilities for adapting standardized tests and the implementation of interactional partnership in assessment. Cognitive assessments were made with an individually-adapted psychological assessment tool, the Bayley Scales of Infant and Toddler Development. The assessment situations were video-recorded and analyzed based on sociocultural theories of early interaction, dynamic assessment, and the bodily-tactile modality of cognition. The results showed that the requirements for assessment are complex and highly individualized, extending beyond universal guidelines on test adaptations. The assessments were built on developmental steps within the standardized test, but required a special emphasis on individuality and interaction. We conclude that the study provides novel insights into an under-researched area of cognitive assessment, confirming earlier findings that cognitive skills become observable in unique moments of intensive interaction. The assessor must follow the principles of dynamic assessment, applying competent partner strategies such as providing safety, supporting attention, activity, and alertness, and scaffolding the target skills in the zone of proximal development. Conducted thus, the cognitive assessment process can enable the assessor to recognize, support and authenticate the agency of persons with complex disabilities.

Quality of Life of Persons with Severe or Profound Intellectual and Developmental Disabilities Transitioning Into Community from a Complex Care Residence in Canada

Quality of Life of Persons with Severe or Profound Intellectual and Developmental Disabilities Transitioning Into Community from a Complex Care Residence in Canada

A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures.

1. Julia M. Rosenberg, MD*,† 2. Camille Brown, MD* 3. Michele J. Spencer-Manzon, MD*,‡ 1. *Department of Pediatrics, Yale New Haven Children’s Hospital, New Haven, CT 2. †National Clinician Scholars Program, 3. ‡Yale School of Medicine, Department of Genetics, Yale University, New Haven, CT 1. Address correspondence to Julia M. Rosenberg, MD, National Clinician Scholars Program, PO Box 208088, New Haven, CT 06510. E-mail: julia.rosenberg{at}yale.edu A 6-year-old girl presents to the pediatric refugee clinic for her initial refugee health assessment shortly after arrival from Syria. Her past history is notable for a seizure disorder of unknown etiology and global developmental disability. After an uncomplicated prenatal and postnatal course, the patient’s seizures and developmental delays reportedly first manifested at 7 months of age. At that time, the family attributed the seizure to a fall from a stroller. After this event, she had a total of 4 more lifetime seizures, which were characterized by eye rolling, clonic posturing, and left arm jerking. Her only medications are clobazam and valproic acid. Her family history is negative for known seizures or genetic disorders, although her parents are consanguineous (first cousins). Her review of systems is otherwise negative, and her family denies previous infectious diseases nor exposure to individuals with tuberculosis. At presentation to our clinic, her estimated developmental age is ∼9 months; her global developmental deficiencies include speech, fine motor, and gross motor delays. She is nonverbal, has poor receptive language skills, and is unable to follow commands. She can scoot but is nonambulatory. She cannot feed herself and is not toilet-trained. On examination, the patient has no dysmorphic features. She demonstrates intermittent posturing and rocking movements and has generalized hypotonia and motor weakness; she can maintain sitting and standing positions only with support. She was found on ophthalmologic examination to have myopia. Cranial nerves II-XII are intact. Strength is III/V in both upper and lower extremities. She does not have neurocutaneous markings nor abnormal odors. Initial refugee screening laboratory results, which are expanded to include a complete metabolic …

Promoting Object Manipulation and Reducing Tongue Protrusion in Seven Children with Angelman Syndrome and Developmental Disabilities through Microswitch-Cluster Technology: a Research Extension

We further extended the use of a microswitch-cluster technology to promote object manipulation and to reduce tongue protrusion in seven children with Angelman syndrome. Study I included seven participants with severe to profound developmental disabilities. An ABB1AB1 experimental sequence was implemented. During the baselines (i.e., A phases) the technology was available but inactive. During the intervention (i.e., B phase) the adaptive responding was positively reinforced irrespective of the challenging behavior. During the cluster (i.e., B1 phases) the adaptive responding was contingently reinforced only if it occurred free of the challenging behavior. A long-term follow-up (i.e., 24 months) was conducted. Intervals with indices of positive participation as an outcome measure of the participants’ constructive engagement and favorable occupation were additionally recorded. Study II recruited 56 external raters (i.e., equally divided in 4 groups among caregivers, physiotherapists, psychologists, and teachers) in a social validation procedure. Results evidenced the effectiveness and the suitability of the technology to pursue the dual goal (i.e., increasing the adaptive responding and simultaneously decreasing the challenging behavior). All the participants consolidated their learning process and positively participated along the intervention phases. Social raters favorably scored the use of the technology. Educational, clinical, psychological, and rehabilitative implications of the findings were critically discussed. Some useful insights for future research and practice were emphasized.

Supporting Adaptive Responding and Reducing Challenging Behaviors of Children with Rare Genetic Syndromes and Severe to Profound Developmental Disabilities Through Assistive Technology-Based Programs

Supporting Adaptive Responding and Reducing Challenging Behaviors of Children with Rare Genetic Syndromes and Severe to Profound Developmental Disabilities Through Assistive Technology-Based Programs

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

ObjectiveWe describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear‐encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially associated with infantile degeneration of the cerebrum, cerebellum, and retina, resulting in profound intellectual and developmental disability and early death. Subsequent studies have identified a range of homozygous and compound heterozygous pathogenic missense, nonsense, frameshift, and splice‐site ACO2 variants in patients with a spectrum of clinical manifestations and disease severities.MethodsWe describe a cohort of five novel patients with biallelic pathogenic variants in ACO2. We review the clinical histories of these patients as well as the molecular and functional characterization of the associated ACO2 variants and compare with those described previously in the literature.ResultsTwo siblings with relatively mild symptoms presented with episodic ataxia, mild developmental delays, severe dysarthria, and behavioral abnormalities including hyperactivity and depressive symptoms with generalized anxiety. One patient presented with the classic form with cerebellar hypoplasia, ataxia, seizures, optic atrophy, and retinitis pigmentosa. Another unrelated patient presented with ataxia but developed severe progressive spastic quadriplegia. Another patient demonstrated a spinal muscular atrophy‐like presentation with severe neonatal hypotonia, diminished reflexes, and poor respiratory drive, leading to ventilator dependence until death at the age of 9 months.InterpretationIn this study, we highlight the importance of recognizing milder forms of the disorder, which may escape detection due to atypical disease presentation.

EVALUATION OF APPLIED DIETARY MANAGEMENT IN PATIENTS WITH UREA CYCLE DISORDERS

Urea cycle disorders (UCDs) represent a group of rare inherited metabolic disorders resulting from a partial or complete deficiency of one of the urea cycle components, thereby resulting in accumulation of ammonia, as well as other nitrogenous products, including glutamine and alanine. However, hyperammonemia results in cerebral edema and neurologic injury. These disorders may present at birth, childhood, or adulthood and may range from a relatively mild encephalopathy to profound developmental disability. Early diagnosis and treatment may prevent some of the adverse outcomes, which are primarily neurological. In the present work child growth parameters were used to check efficiency of dietary that introduce to children, through four growth parameters that including length for age, weight for age, head circumference for age and body mass index (BMI) for age. The study revealed the prevalence between the onset of diagnosis and follow up based on anthropometric measurements was 50% stunted, 25% underweight and 37% wasted for BMI, compared to 87.5%, 75% and 25% respectively for the same parameters, after applied urea cycle disorders diet. This finding shows that even with adequate management of cases with urea cycle disorders also, some fractions of cases were stunted, underweight, wasted and microcephaly.

Are individuals with intellectual and developmental disabilities included in research? A review of the literature

The rights of people with intellectual and developmental disabilities to be included in research is increasingly being recognised. Given this, there is a need for further understanding of the extent to which inclusive research practices with self-advocates have been successful in creating meaningfully collaborative research teams. The following review examined how often descriptions of methods and practice have aligned in inclusive research with people with intellectual and developmental disabilities, using the categories of advisory, leading and controlling, and collaborative group. Did the description of the research process fit the type of inclusive approach intended? A sample of 53 studies was systematically selected. Findings indicated that 48 of the 53 studies described their research process in terms of the advisory (n = 3), leading and controlling (n = 4), or collaborative group category (n = 41) and matched their intention, while 5 of the 53 studies described a collaborative group approach but enacted an advisory group approach. While the majority of articles described their process as congruent with the intentions that they set out, improvement in inclusive research practices is still needed. The use of a collaborative approach dominated, and leadership and control by people with intellectual and developmental disabilities was rare. Future research should explore the potential for self-advocates to lead. Also, the majority of the studies tended to collaborate with individuals with mild to moderate intellectual and developmental disabilities. Future research should consider a commitment to including individuals with severe to profound intellectual and developmental disabilities.

Technological Solutions for Helping Adaptive Responding of Children with Severe to Profound Developmental Disabilities

This article provides the reader with a literature overview of the newest empirical evidences available on the use of assistive technology-based programs for teaching and improving adaptive responding of children with severe to profound developmental disabilities. Four main categories of studies were selected, regarding (a) the technology for promoting independent access to positive stimulation, (b) the combination between microswitch and VOCA aimed at asking for social contact with a caregiver, (c) the cluster technology for increasing an adaptive response, and simultaneously reducing a challenging behavior, (d) the technology for requesting and choosing desired item or the access to the literacy. Overall, 26 studies were reviewed, and 75 participants were involved. The outcomes were largely positive, although few failures occurred. Psychological and Rehabilitative implications of the findings for both research and clinical practices were critically discussed

Microswitch-Cluster Technology for Promoting Occupation and Reducing Hand Biting of Six Adolescents with Fragile X Syndrome: New Evidence and Social Rating

We further extended the use of microswitch-cluster technology for promoting occupational activities and reducing hand biting of six adolescents with fragile X syndrome and severe to profound developmental disabilities. The primary rehabilitative goal was to enhance the adaptive response (i.e., inserting three different objects in the three containers within a 4 s time interval). The secondary objective was to evaluate the effects of the intervention on indices of positive participation as outcome measure of the participants ‘quality of life. Finally, a social validation assessment involving sixty-six external raters was conducted. The study was carried out according to an ABB1AB1 experimental sequence for each participant. Thus, A indicated baselines, B indicated the intervention focused on promoting the adaptive response irrespective of the challenging behavior, and B1 indicated the cluster phases with the provision of positive stimulation only if the adaptive response was exhibited with the absence of the challenging behavior. A one-year follow-up was implemented. Results showed an improved performance for all the participants, which was maintained over the time. Indices of positive participation increased as well. Social raters favorably scored the use of the microswitch-cluster technology. Clinical, educational, psychological, and rehabilitative implications of the findings were critically discussed.

Support Group Value and Design for Parents of Children with Severe or Profound Intellectual and Developmental Disabilities.

The purpose of this study was to interview parents of children with severe or profound intellectual and developmental disabilities todetermine the perceived value of support groups and identify recommendations for support group design based on their experiences and feedback. Despite varied experiences with support groups, most parents indicated the value of support groups is in providing a place where parents can feel understood and bothshare and gather information. Parents recommended support groups be targeted for parents of children with similar disabilities and needs, have flexible structures and qualified leaders, and offer a wide variety of content in various formats. Given parental recommendations for support group design varied, summary recommendations addressing a wide range of preferences are provided.

The Spectacle of the Child Woman: Troubling Girls and the Science of Early Puberty

Feminist Studies 44, no. 3. © 2018 by Feminist Studies, Inc. 535 Carla Rice The Spectacle of the Child Woman: Troubling Girls and the Science of Early Puberty In 2007, pillowangel.org, a support forum documenting the life of Ashley X, received over two million hits after endocrinologist Dr. Daniel F. Gunther explained on CNN the growth attenuation treatment he had administered to Ashley X the previous year. In response to a desperate request from her parents, Ashley X, then a six-year-old severely disabled child from Seattle, Washington, was given high-dose estrogen, a complete hysterectomy, and a breast-bud mastectomy to prevent her transition to embodied adulthood.1 Parents and doctors defended the decision to arrest Ashley X’s development and halt her physical growth, arguing that it would ease her transfer during caregiving, prevent the discomfort of big breasts and the messiness of menstruation, and shield her from abuse.2 It was felt that the interventions would match Ashley X’s body to her mind, which experts considered to be at the level of a six-month-old, and halt her physical development, offering more congruency between her “childlike” mind and her body. 1. Eva Feder Kittay, “Forever Small: The Strange Case of Ashley X,” Hypatia 26, no. 3 (Summer 2011): 623. 2. Daniel F. Gunther and Douglas S. Diekema, “Attenuating Growth in Children with Profound Developmental Disability,” Archives of Pediatrics and Adolescent Medicine 160, no. 10 (2006): 1013–17. 536 Carla Rice Ashley X’s story was rife with controversy, but other families have followed suit.3 In fact, as disability studies scholar Alison Kafer notes, in their initial report on the treatment protocol for Ashley X, her doctors present her sterilization as an afterthought or a nonissue, so much was her body conceived as out-of-the-ordinary.4 Over the past twenty years, concern over what is seen as the premature development of young girls has captured the Anglo-Western cultural imagination. Not only has popular media been rife with feature stories about girls’ coming of age “too early,” but epidemiological research has focused much attention on the demographic makeup of girls’ experiencing so-called precocious puberty—elevating this trend to pathological proportions. In public and professional spheres, the discourse has presented precocious puberty as a worrisome new public health problem to be prevented or overcome.5 The public’s fascination with Ashley X represents a particularly vivid, perhaps maximal example of what sociologist Celia Roberts describes as “crisis articulations” surrounding early puberty in girls and what I deem to be an ongoing, visually fueled fascination with bodies conceived of as Other throughout puberty science’s development in the twentieth century.6 In particular, concerns about disabled and racialized girls’ untimely development have intensified over the past twenty years, evidenced by disproportionate attention given to race in puberty research and by controversial medical treatments used to arrest the sexed and sexual development of disabled children such as Ashley X. Unlike their male peers who have reportedly received less invasive treatments, disabled girls experiencing early puberty have been given full infantilizing surgeries.7 The implications of championing the need for a physiological and psychological “match” are particularly 3. Kristen Gelineau, “Family Makes Controversial Decision to Stunt Disabled Daughter’s Growth,” USA Today, October 26, 2015, http://www.usatoday.com /story/news/2015/10/26/disabled-girls-growth-stunted/74645194. 4. Alison Kafer, Feminist, Queer, Crip (Bloomington: Indiana University Press, 2013), 57. 5. Sharon R. Mazzarella, “Coming of Age Too Soon: Journalistic Practice in US Newspaper Coverage of ‘Early Puberty’ in Girls,” Communication Quarterly 58, no. 1 (2010): 36–58. 6. Celia Roberts, Puberty in Crisis: The Sociology of Sexual Development (Cambridge : Cambridge University Press, 2015), 3. 7. Ravi Malhotra and Katharine Neufeld, “The Legal Politics of Growth Attenuation ,” Windsor Review of Legal and Social Issues 34 (2013): 105–52. Carla Rice 537 deleterious when considered in the context of trans, aging, and disability studies perspectives. Medical imposition of mind-body congruency has severe repercussions for the sex and sexuality claims of those whose bodies and minds are not, in fact, “matched” according to normative standards (including trans people, people with disabilities, and adults living with...

Music Therapy for Multisensory and Body Awareness in Children and Adults With Severe to Profound Multiple Disabilities: The MuSense Manual

Music Therapy for Multisensory and Body Awareness in Children and Adults With Severe to Profound Multiple Disabilities: The MuSense Manual introduces an original music-based program for music therapists to incorporate when helping individuals with profound intellectual and developmental disabilities develop sensory and body awareness. The authors, Roberta Adler and Olga Samsonova-Jellison, developed the MuSense Program after 12 years of searching for best practice solutions to meet the needs of their clients, individuals who, due to their disability, seemed to have little to no awareness of their bodies or the world. Rooted in humanistic philosophy, the MuSense Program is also informed by neurological, developmental, improvisational, and behavioral music therapy treatment approaches. Though no systematic explorations of the efficacy of this program are mentioned, the manual does include numerous vignettes compiled from the authors’ combined 43 years of clinical practice as a way to highlight the program’s impact. In this way, Adler and Samsonova-Jellison’s text provides an example of compiling case narrative examples in a clinical environment to enhance knowledge with real-world practice.

Potential Benefits of Ameliorating Metabolic and Nutritional Abnormalities in People With Profound Developmental Disabilities.

Background:People with profound developmental disabilities have some of the most severe neurological impairments seen in society, have accelerated mortality due to huge medical challenges, and yet are often excluded from scientific studies. They actually have at least 2 layers of conditions: (1) the original disability and (2) multiple under-recognized and underexplored metabolic and nutritional imbalances involving minerals (calcium, zinc, and selenium), amino acids (taurine, tryptophan), fatty acids (linoleic acid, docosahexaenoic acid, arachidonic acid, adrenic acid, Mead acid, plasmalogens), carnitine, hormones (insulinlike growth factor 1), measures of oxidative stress, and likely other substances and systems.Summary:This review provides the first list of metabolic and nutritional abnormalities commonly found in people with profound developmental disabilities and, based on the quality of life effects of similar abnormalities in neurotypical people, indicates the potential effects of these abnormalities in this population which often cannot communicate symptoms.Key messages:We propose that improved understanding and management of these disturbed mechanisms would enhance the quality of life of people with profound developmental disabilities. Such insights may also apply to people with other conditions associated with disability, including some diseases requiring stem cell implantation and living in microgravity.

Extending Microswitch-Cluster Programs to Promote Occupation Activities and Reduce Mouthing by six Children with Autism Spectrum Disorders and Intellectual Disabilities

We extended the use of microswitch-cluster technology to six children with severe to profound developmental disabilities and autism spectrum disorders. The primary aim of the intervention was to improve the adaptive behavior (ie, insert three objects in three different containers within 3 s) and simultaneously decrease the challenging behavior of hand/objects mouthing. The second aim was to assess the effects of the intervention on the indices of happiness. An ABCAC experimental sequence was adopted for each participant. Thus, subsequent to a baseline condition, a first intervention phase was implemented for increasing the adaptive responding irrespective of the challenging behavior, followed by a cluster phase in which positive stimulation was provided contingent on an adaptive response, only if the challenging behavior was absent. A 3 month follow-up occurred. Results showed a performance improvement for all participants involved. Additionally, they all consolidated the adaptive responding during the follow-up. Sixty external raters favorably endorsed the use of such technology. Implications of the findings were discussed.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability. Identification of the responsible gene by whole exome sequencing and homozygosity mapping. Ten patients from 4 consanguineous Palestinian families manifested in utero with hyperechogenic brain foci, microcephaly, and intrauterine growth retardation. Postnatally, patients had progressive severe microcephaly, neonatal seizures, and virtually no developmental milestones. Brain imaging revealed dysplastic elongated masses in the midbrain-hypothalamus-optic tract area. Whole exome sequencing of one affected child revealed only PCDH12 c.2515C>T, p.R839X, to be homozygous in the proband and to cosegregate with the condition in her family. The allele frequency of PCDH12 p.R839X is <0.00001 worldwide. Genotyping PCDH12 p.R839X in 3 other families with affected children yielded perfect cosegregation with the phenotype (probability by chance is 2.0 × 10(-12)). Homozygosity mapping revealed that PCDH12 p.R839X lies in the largest homozygous region (11.7 MB) shared by all affected patients. The mutation reduces transcript expression by 84% (p < 2.4 × 10(-13)). PCDH12 is a vascular endothelial protocadherin that promotes cellular adhesion. Endothelial adhesion disruptions due to mutations in OCLN or JAM3 also cause congenital microcephaly, intracranial calcifications, and profound psychomotor disability. Loss of function of PCDH12 leads to recessive congenital microcephaly with profound developmental disability. The phenotype resembles Aicardi-Goutières syndrome and in utero infections. In cases with similar manifestations but no evidence of infection, our results suggest consideration of an additional, albeit rare, cause of congenital microcephaly.

Assistive technology to promote occupation and reduce mouthing by three boys with fragile X syndrome

ABSTRACTObjectives: To extend the use of assistive technology (AT) for promoting a new adaptive response and to reduce hand mouthing, by three boys with fragile X syndrome. To monitor the effects of the intervention program on the positive mood. To carry out a three month follow-up phases. To conduct a social validation assessment involving 30 parents of children who presented multiple disabilities as raters.Methods: The study was implemented according to an ABAB experimental design, where A represented baseline phases (technology available but inactive) and B represented intervention phases (the technology ensured 7 s of positive stimulation). Results: All participants improved and consolidated their performance. Parents involved in the social validation assessment rated positively the use of such technology. Conclusion: AT-based program was useful, affordable, and effective for enhancing constructive engagement, self-determination, and for improving quality of life by children with fragile X syndrome and severe to profound developmental disabilities.