(22) The Impact of Speech, Language, and Feeding Difficulties, and Various Physical Characteristics, Among Individuals with Cornelia de Lange Syndrome (CdLS)
Cheri S. Carrico, Ph.D, CCC-SLP: Child's Voice School: Financial - Salary (Terminated, June 3, 2022), Financial - Salary (Terminated, June 3, 2022); Elmhurst University: Financial - Salary (Ongoing), Financial - Salary (Ongoing). No non-financial relationships to disclose
Abstract:: Individuals with Cornelia de Lange syndrome (CdLS) demonstrate a variety of physical, medical, and intellectual challenges that are associated with difficulties in speech, language, and feeding development. Their difficulties are impacted by orofacial differences, GERD, and intellectual disabilities, and the majority of individuals with CdLS demonstrate significant difficulty with their speech, language, and feeding skills. Use of gestures is a relative strength, but many individuals do not achieve oral communication. Many affected individuals also have a history of tube feedings and sensory-based feeding issues. This presentation explores the communication and feeding abilities of 23 individuals with CdLS (15 females and 8 males) between 1 and 35 years of age. The relationship between their speech and language abilities and feeding skills was compared. Although speech, language, and feeding difficulties were prevalent, preliminary findings suggest that fewer feeding difficulties may positively correlate with language development, particularly in the areas of vocabulary development and sentence length, at least in this population.
Summary of Presentation Individuals with Cornelia de Lange syndrome (CdLS) present with a variety of physical, medical, and cognitive characteristics that may impact speech, language, and feeding abilities. Physical differences include atypical facial features (high arched eyebrows, synophrys, under-developed philtrum, long eye lashes), and being short in stature; however, differences that may impact feeding include a high arched palate and micrognathia. Feeding also is impacted by a significant history of gastroesophageal reflux disease (GERD), including the need for fundoplication surgery, and sensory-based feeding issues. In addition to intellectual disabilities, there also is an increased risk for autistic tendencies, and more severely affected individuals typically demonstrate upper limb differences.
Previous investigations of individuals with Cornelia de Lange syndrome indicated that affected individuals are at high risk for speech, language, and feeding difficulties. Fifteen females (1 to 14 years) and 8 males (2 to 35 years) participated in the current study. Findings were based on clinical observation and parent/care giver report. Among the participants, 10 individuals (43%) used some level of oral communication and two individuals (9%) used sign language to communicate; the remainder (48%) were nonverbal. Speech difficulties included reduced or limited intelligibility, particularly for strangers, although caregivers reportedly understood more of their speech.
In typical infants, babbling begins around 4 to 6 months of age. Only one participant began babbling within this age range. The remainder (96%) were delayed. Four babbled prior to one year of age, seven babbled between 12 and 18 months of age, and four babbled between 2 and 4 years of age. Seven participants never babbled. Usage of gestures typically begins developing at 7 to 12 months of age. All but one of the participants (95%) used recognizable gestures to communicate or to supplement their oral language, indicating this as an area of relative strength. First words typically develop by around one year of age. Two participants (9%) produced their first words in this range; the remainder (91%) were delayed. Five participants produced first words between one and two years of age, two between two and three years of age, and one at age six; the remaining 11 (48%) were nonverbal. Of the participants who exhibited some form of expressive language, five produced only one to three oral words, one produced four to five signs, one produced 12 to 14 signs, two produced 30 to 50 words, and two adults demonstrated a larger vocabulary than could be counted. Typically developing children begin using word combinations between 12 and 26 months of age. Sixteen participants (70%) did not combine words; the remainder (30%) began combining words in phrases between two and four years of age. The two adult males (9%) produced sentences that were four or more words in length; the remaining four participants (17%) produced phrases that were only two to three words or signs in length. None had normal language skills. According to caregivers, two participants exhibited autistic tendencies and one was diagnosed with PDD-NOS.
Similar to previous studies, feeding difficulties were confirmed in this sample. Many were slow or picky eaters with difficulty biting and chewing. Five participants were solely tube fed, two consumed liquids (one also supplemented with tube feeds), seven had advanced to pureed foods, and eight consumed solid foods (one also supplemented with tube feeds).
Feeding abilities were compared to speech-language development. Of the five participants who were solely tube fed, three exhibited no oral language and two produced one to three words. The two participants who consumed liquids produced one or two words. Of the seven participants who consumed pureed foods, four had no expressive language, two produced one word, and one demonstrated 12 to 14 signs. Of the eight participants who consumed solid foods, three were nonverbal, and five demonstrated expressive language. One, who also was tube fed, produced four to five signs. Two participants produced 30 to 50 words, and the two adult males, both with normal feeding abilities, exhibited more extensive vocabularies and longer sentences.
The results of this study confirm that speech, language, and feeding abilities typically fall significantly below age level expectations among individuals with CdLS. The ability to consume solid foods may be correlated with positive language outcomes in this population. Further investigation is needed to confirm this hypothesis.
Learning Objectives:
At the completion of this activity, participants should be able to:
Upon completion, participants will describe at least two atypical characteristics, associated with a diagnosis of CdLS, that impact speech-language and feeding development in this population.
Upon completion, participants will describe at least two speech-language difficulties that are prevalent among individuals with a diagnosis of CdLS.
Upon completion, participants will describe at least two feeding challenges that are prevalent among individuals with a diagnosis of CdLS.