What is PURA-related disorder?
The PURA gene is found on chromosome 5, on the q arm (5q31.3). PURA-related disorder can be caused by a sequence variant in the PURA gene, or a deletion that encompasses all of part of the PURA gene.1,2 Individuals with PURA-related disorder can have hypotonia, feeding impairment, epilepsy, and vision impairments. Other conditions, such as cardiac abnormalities, urogenital malformations, hormone (endocrine) disorders, and skeletal abnormalities do occur, but less frequently. Fine and gross motor difficulties are also common.1,2,3 Most individuals have moderate to severe intellectual disability, however there are individuals in the literature who do not have an intellectual disability.4
For further information, do get in touch with the CRE Speech and Language research team at:
Phone: (03) 9936 6334
Frequently asked questions
There is much variation in the developmental presentation of children with PURA-related disorder. The presence and severity of other associated features (e.g., intellectual disability) may also affect speech development. Based on present research, some children with PURA-related disorder will take more time to reach developmental speech and language milestones relative to peers, while other children with PURA-related disorder are unable to speak verbally.2,3
Individuals with PURA- related disorder may have relative strengths in their receptive language (understanding skills), but expressive language is more challenging.1 One speech condition that has been linked to PURA-related disorder is Childhood Apraxia of Speech (CAS).4 CAS is a motor speech disorder affecting production, sequencing, and stress of speech. Other Speech conditions that have been reported in PURA-related disorder are phonological disorder and articulation disorder. 4
There is considerable variability between individuals with this condition. Currently, there is not enough data to inform exactly how speech develops overtime and when certain milestones can be anticipated. Some individuals do not develop enough verbal speech to rely on this for their daily communication needs. These individuals require augmentative and alternative communication (AAC) systems to communicate, whilst other individuals can rely on verbal speech to communicate.3,4
Of the individuals reported to date in the scientific literature, some individuals attend mainstream school with support, and others may attend specialist school settings, especially those individuals with moderate to severe intellectual disability.1 However, any individual should be assessed for their needs, and should attend the most appropriate education setting based on their needs, the supports available in different educational settings and of course taking into consideration local educational policies.
At present, speech and language therapies are focused on the individual’s specific speech and language needs. A speech pathology assessment will pinpoint the specific areas for support, taking into consideration the goals for the individual/family. Children who have few spoken words or some words that are unclear, may benefit from augmentative and alternative communication (AAC) options (e.g., sign language, electronic speech generating devices).
For verbal children who have CAS, the Nuffield Dyspraxia Programme version 3 (NDP-3) or the Rapid Syllable Transition Treatment (ReST), are two programs which have been proven to be effective in a randomised controlled trial.4 There are currently a number of other CAS focused therapies undergoing rigorous clinical testing, including Dynamic Tactile Temporal Cueing.5 One treatment that is often used for children who are minimally verbal and who benefit from tactile prompts (prompts to the lips, cheek etc) to help stimulate speech production is Prompts for Restructuring Oral Muscular Phonetic Targets (PROMPT). 6,7 Yet to date, none of these therapies have not been specifically trialled with children with neurogenetic conditions. Further to the speech production therapies, children who have delayed language also require early intervention programs targeting early language development.8
For information and support on PURA-related disorder visit: https://www.purasyndrome.org/
For information and support on childhood apraxia of speech: https://www.apraxia-kids.org
- Reijnders, M. R., Leventer, R. J., Lee, B. H., Baralle, D., Selber, P., Paciorkowski, A. R., & Hunt, D. (2017). PURA-related neurodevelopmental disorders.
- Reijnders, M. R., Janowski, R., Alvi, M., Self, J. E., Van Essen, T. J., Vreeburg, M., ... & Baralle, D. (2018). PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Journal of Medical Genetics, 55(2), 104-113.
- Choi, S. A., Lee, H. S., Park, T. J., Park, S., Ko, Y. J., Kim, S. Y., ... & Chae, J. H. (2021). Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders. Brain and Development, 43(9), 912-918.
- Kaspi, A., Hildebrand, M. S., Jackson, V. E., Braden, R., Van Reyk, O., Howell, T., ... & Morgan, A. T. (2022). Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular psychiatry, 1-17.
- Strand, E. A. (2020). Dynamic temporal and tactile cueing: A treatment strategy for childhood apraxia of speech. American Journal of Speech-Language Pathology, 29(1), 30-48.
- Morgan, A. T., Murray, E., & Liegeois, F. J. (2018). Interventions for childhood apraxia of speech. Cochrane Database of Systematic Reviews, (5).
- Namasivayam, A. K., Huynh, A., Granata, F., Law, V., & van Lieshout, P. (2021). PROMPT intervention for children with severe speech motor delay: a randomized control trial. Pediatric research, 89(3), 613-621.
- Ebbels, S. H., McCartney, E., Slonims, V., Dockrell, J. E., & Norbury, C. F. (2019). Evidence‐based pathways to intervention for children with language disorders. International journal of language & communication disorders, 54(1), 3-19.