Language and Communication Changes in a Child with Holoprosencephaly: A Case Report
Romski, Mary Ann, Haarbauer-Krupa, Juliet, Cheslock, Melissa, Sevcik, Rose A., Adamson, Lauren B., Journal of Medical Speech - Language Pathology
Children with holoprosencephaly (HPE) who survive have a guarded prognosis for expressive speech and language development. This case report describes the communication outcomes for a young child with HPE after experience with a parent-implemented augmented communication approach and a speech-generating device. Despite numerous medical complications and limited speech development, the child made consistent gains in receptive language skills and expressive communication. The use of the parent-implemented augmented communication output intervention can be an integral component of communication intervention approaches for young children with developmental disabilities and complex medical conditions, such as HPE. It provides a means for facilitating communication experience for children with a guarded prognosis for speech development and may indeed improve the quality of life for children and their families
Holoprosencephaly (HPE) is a structural anomaly of the face and brain, with the major feature being incomplete separation of the cerebral hemispheres. The interhemispheric fissure and the corpus callosum are absent. HPE is due to an incomplete cleavage of the embryonic forebrain, occurring during the first 4 weeks of embryonic development. Three types of HPE have been identified based on severity from most to least and brain morphology: alobar, semilobar, and lobar (Croen, Shaw, & Lamer, 1996; DeMyer, Zeman, & Palmer, 1964; Plawner et al., 2002). With alobar HPE, there is a complete or almost complete lack of separation of the hemispheres. Semilobar and lobar HPE have some separation of the hemispheres (see Hahu & Plawner  for magnetic resonance imaging examples of the three types). More recently, Hahu and Plawner (2004) identified a milder fourth form, middle interhemispheric variant. Because this anomaly occurs early in embryonic development, cascading effects often alter further development. Only 3% of fetuses with HPE survive to delivery, thus, the prevalence of HPE is estimated at 1 in 10,000 live births (Hahu & Plawner, 2004).
Children with HPE may present with numerous neurologic concerns including spasticity, athetoid movements, seizure disorders, feeding difficulties, facial anomalies, endocrine abnormalities, and mild to severe delays in cognition (Hahn & Plawner, 2004; Plawner et al., 2002; Sarnat & Flores-Sarnat, 2001). Assessment of cognitive skills is often confounded by particular difficulties with language and communication development (Sarnat & Flores-Sarnat, 2001). Delayed speech and language development is highly likely for these children (Plawner et al 2002). Prediction of intellectual outcome based on severity of brain malformation is misleading because many children with HPE demonstrate surprisingly better levels of function than would be predicted by brain imaging studies (Sarnat, 2000; Sarnat & Sarnat-Flores, 2001). More recent studies utilizing neuroimaging techniques report a correlation between the type of HPE and the severity of developmental delays and motor abnormalities (Plawner et al., 2002). In particular, Plawner et al. (2002) verified severe motor and developmental disabilities for children with alobar HPE and more variable outcomes for children with the semilobar and lobar types of HPE, with some children demonstrating severe disabilities while others were surviving into the teenage years with relatively mild impairments. Today, children with HPE are diagnosed earlier, survive infancy, and have the potential for a lifespan into childhood and beyond (Hahn & Plawner, 2004; Plawner et al., 2002).
Cognitive disabilities as well as speech and language impairments are probable for almost all of these children. Communication and language intervention at a young age may improve the quality of life for children with HPE and their families. Current research and recommended practice on language and communication intervention suggests that children with severe cognitive disabilities can be successful communicators using language and communication intervention that includes augmentative and alternative communication (AAC; Romski & Sevcik, 2005; Romski, Sevcik, & Forrest, 2001; Sevcik, Romski, & Adamson, 2004). …