Packing and Problematic Feeding Behaviors in CHARGE Syndrome: A Qualitative Analysis

Hudson, Alexandra; Macdonald, Meghan; Blake, Kim

doi:10.1016/j.ijporl.2016.01.009

Cited by 21 publications

(22 citation statements)

References 31 publications

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“…It has also recently been reported in CHARGE syndrome with parental worry regarding choking as a common reported consequence of the child overstuffing and packing food in their cheeks . This study also found that lumpy/mashed food was one of the most common textures of food to be overstuffed and packed, as was reported in the first patient in this review, who overstuffed, and consequently choked on, broccoli and mashed vegetables . These problematic feeding behaviours are thought to be due to cranial nerve dysfunction, resulting in hyposensitivity in the oral cavity, as well as abnormal motor coordination of the muscles of mastication and swallowing .…”

Section: Discussionsupporting

confidence: 75%

“…Mouth over-stuffing and pocketing of food into cheeks, also known as packing, has been previously reported as a problematic feeding behaviour in children with autism, Down syndrome, and in those transitioning from tube to oral feeding (20)(21)(22). It has also recently been reported in CHARGE syndrome with parental worry regarding choking as a common reported consequence of the child overstuffing and packing food in their cheeks (11). This study also found that lumpy/mashed food was one of the most common textures of food to be overstuffed and packed, as was reported in the first patient in this review, who overstuffed, and consequently choked on, broccoli and mashed vegetables (11).…”

Section: Discussionmentioning

confidence: 99%

“…This study also found that lumpy/mashed food was one of the most common textures of food to be overstuffed and packed, as was reported in the first patient in this review, who overstuffed, and consequently choked on, broccoli and mashed vegetables (11). These problematic feeding behaviours are thought to be due to cranial nerve dysfunction, resulting in hyposensitivity in the oral cavity, as well as abnormal motor coordination of the muscles of mastication and swallowing (11,12,23,24). Feeding therapy with a speech language pathologist or occupational therapist early in the course of feeding difficulties may help reduce these adverse feeding behaviours.…”

Section: Discussionmentioning

confidence: 99%

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CHARGE syndrome gastrointestinal involvement: from mouth to anus

et al. 2017

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CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities. Over 90% of children need tube feeding early in their life and many experience weak sucking/chewing, gastroesophageal reflux disease (GERD), and aspiration. The mainstay of treatment thus far has consisted of feeding therapy, GERD medications, Nissen fundoplication, gastrostomy/jejunostomy, and food texture limitation. Owing to the multitude of severe medical issues associated with this genetic disorder, GI involvement is often overlooked. Here, we report on five patients with CHARGE syndrome who manifested a range of severe GI and feeding difficulties.

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Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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CHARGE syndrome gastrointestinal involvement: from mouth to anus

et al. 2017

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“…Chewing and swallowing difficulties have been well‐documented , but reports by individual groups suggest that in addition, individuals with CHARGE syndrome may be limited in the amount of food they can consume in one sitting. Specifically, our group has collected clinical information internationally using voluntary surveys in which parents or caregivers indicate that individuals with CHARGE syndrome exhibit a ‘food pocketing’ behavior, wherein they try to avoid swallowing food that they have chewed by holding it in their cheeks . Additionally, our own anecdotal experience is that patients with CHARGE syndrome have smaller stomachs on upper GI barium studies (K. Blake, unpublished).…”

Section: Discussionmentioning

confidence: 99%

Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome

et al. 2018

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CHARGE syndrome is linked to autosomal-dominant mutations in the CHD7 gene and results in a number of physiological and structural abnormalities, including heart defects, hearing and vision loss, and gastrointestinal (GI) problems. Of these challenges, GI problems have a profound impact throughout an individual's life, resulting in increased morbidity and mortality. A homolog of CHD7 has been identified in the zebrafish, the loss of which recapitulates many of the features of the human disease. Using a morpholino chd7 knockdown model complemented by a chd7 null mutant zebrafish line, we examined GI structure, innervation, and motility in larval zebrafish. Loss of chd7 resulted in physically smaller GI tracts with normal epithelial and muscular histology, but decreased and disorganized vagal projections, particularly in the foregut. chd7 morphant larvae had significantly less ability to empty their GI tract of gavaged fluorescent beads, and this condition was only minimally improved by the prokinetic agents, domperidone and erythromycin, in keeping with mixed responses to these agents in patients with CHARGE syndrome. The conserved genetics and transparency of the zebrafish have provided new insights into the consequences of chd7 gene dysfunction on the GI system and cranial nerve patterning. These findings highlight the opportunity of the zebrafish to serve as a preclinical model for studying compounds that may improve GI motility in individuals with CHARGE syndrome.

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“…Psychoeducational assessments by professionals who have an understanding of deaf‐blindness should be obtained to examine cognitive abilities and identify learning strengths and difficulties. Some families find that access to technology such as tablets and computers in the classroom are useful to support the learning process. Feeding therapy interventions should be put in place for ongoing issues like food pocketing in the cheeks, unusual chewing, and abnormal swallowing patterns [Hudson et al, , ]. Feeding often becomes one of the principal ongoing issues in childhood.…”

Section: Discussionmentioning

confidence: 99%

Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe)

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Ravenswaaij-Arts

et al. 2017

American J of Med Genetics Pt A

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Health supervision and management considerations for individuals with CHARGE syndrome are often complex, and a comprehensive approach is essential. The Atlantic Canadian CHARGE syndrome team developed a checklist organized by body system and age to aid healthcare providers in their approach to the ongoing care of these individuals. The checklist was evaluated qualitatively using a modified Delphi method with widespread consultation from expert healthcare practitioners, parents, and individuals with CHARGE syndrome. These are the first comprehensive guidelines across the lifespan of CHARGE syndrome that suggest a consistent approach to medical surveillance, investigations, and management for the physician and the multi-disciplinary team caring for these individuals. We anticipate that these guidelines will provide improvements in care by preventing missed diagnoses, allowing for anticipatory counseling, and facilitating early referral for interventions and treatments. © 2017 Wiley Periodicals, Inc.

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Packing and Problematic Feeding Behaviors in CHARGE Syndrome: A Qualitative Analysis

Cited by 21 publications

References 31 publications

CHARGE syndrome gastrointestinal involvement: from mouth to anus

CHARGE syndrome gastrointestinal involvement: from mouth to anus

Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome

Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe)

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