NRXN1

What is a Neurexin 1 (NRXN1)-related speech and language disorder?

NRXN1 deletions are frequently inherited and are found in around one in 5000 individuals in the general population.3 Speech and language difficulties are common in individuals with Neurexin 1 gene (NRXN1) deletions and affect around 60% of individuals. There is diversity in the types of speech and language difficulties seen and there is no strikingly specific speech and language profile. Rather, speech and language difficulties are more typically associated with the individual’s co-occurring developmental conditions such as intellectual disability and social communication difficulties.1

 

For further information contact:

For further information, do get in touch with the CRE Speech and Language research team at:

Email: geneticsofspeech@mcri.edu.au

Phone: (03) 9936 6334

Frequently asked questions

NRXN1 deletions are associated with a range of neurodevelopmental and psychiatric disorders. Around 46% of individuals with NRXN1 deletion have at least two developmental disorders. The following diagnoses have been associated with NRXN1 deletions: intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, anxiety and schizophrenia.1,2 Individuals with NRXN1 deletions are also more likely to have epilepsy and low muscle tone.2

The age children with NRXN1 deletions begin speaking is highly variable. Some children start speaking at the same age as their peers, and a very small minority of children may never develop the ability to use functional language. On one detailed study of speech and language development in children with NRXN1 deletions, 57% of the children were delayed in speaking.1

Difficulties with speech production were noted in 69% of children in one cohort study focused on speech and language abilities. The most common type of speech difficulty reported in this study was phonological delay or disorder (60%), followed by articulation disorder (33%) and childhood apraxia of speech (7%). We did not identify any striking speech features that were specific to children with NRXN1 deletions.

We do not fully understand how speech develops over time for children with NRXN1 deletions due to a lack of research. Speech and language development appears to depend on the severity and nature of the difficulties and may be related to co-occurring conditions such as intellectual disability.

The majority of children with NRXN1 deletions attend mainstream schools. In our study, 68% of school-aged children attended mainstream schools and the remaining 32% attended specialised schools.1

There is no research on speech and language interventions that are specifically designed for children with NRXN1 deletions. Currently, speech and language interventions for this group are guided by the child’s individual profile and the best evidence for speech and language disorders more generally.

In the main cohort study available to date, there were nine adolescents (aged between 10-19 years) with NRXN1 deletions.1 Around 70% of the adolescents had age-appropriate language. Of the 30% who had language impairment, one was mild, one was moderate and one was severely impaired.  Around 50% of the adolescents had mild speech sound disorders, and similarly, around 50% had difficulties with social interaction.

There is no research on how speech and language may change across the lifespan for people with NRXN1 deletions. We do know, however, that speech and language continues to improve throughout childhood in the vast majority of children with NRXN1 deletion

For further reading on NRXN1-related speech and language disorders see:

References

  1. Brignell, A., St John, M., Boys, A., Bruce, A., Dinale, C., Pigdon, L., Hildebrand, M.S., Amor, D.J., & Morgan, A.T. (2018). Characterization of speech and language phenotype in children with NRXN1 deletions. American Journal of Medical Genetics, Part B: Neuropsychiatric genetics, 177(8), 700-708.
  2. Dabell, M.P., Rosenfeld, J.A., Bader, P., Escobar, L.F., El-Khechen, D., Vallee, S.E., Dinulos, M.B., Curry, C., Fisher, J., Tervo, R., Hannibal, M.C., Siefkas, K., Wyatt, P.R., Hughes, L., Smith, R., Ellingwood, S., Lacassie, Y., Stroud, T., Farrell, S.A., Sanchez-Lara, P.A.., Randolph, L.M., Niyazov, D., Stevens, C.A., Schoonveld, C., Skidmore, D., Mackay, S., Miles, J.H., Moodley, M., Huillet, A., Neil, N.J., Ellison, J.W., Ballif, B.C., & Shaffer, L.G. (2013). Investigation of NRXN1 deletions: clinical and molecular characterization. American Journal of Medical Genetics, Part A, 161a(4), 717-731.
  3. Ching, M.S., Shen, Y., Tan, W.H., Jeste, S.S., Morrow, E.M., Chen, X., Mukaddes, N.M., Yoo, S.Y., Hanson, E., Hundley, R., Austin, C., Becker, R.E., Berry, G.T., Driscoll, K., Engle, E.C., Friedman, S., Gusella, J.F., Hisama, F.M., Irons, M.B., Lafiosca, T., LeClair, E., Miller, D.T., Neessen, M., Picker, J.D., Rappaport, L., Rooney, C.M., Sarco, D.P., Stoler, J.M., Walsh, C.A., Wolff, R.R., Zhang, T., Nasir, R.H., Wu, B.L., Children’s Hospital Boston Genotype Phenotype Study Group. (2010). Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American journal of medical genetics, Part B, Neuropsychiatric genetics, 153b(4), 937-947.

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