CHARGE syndrome: Relations between behavioral characteristics and medical conditions

Abstract

The behaviors and medical problems in 27 persons with CHARGE syndrome were studied, because it was hypothesized that their behavior might be partly dependent on the heterogeneous medical status. With the exception of more tics, cardiac surgery was associated with positive behaviors: less withdrawn behavior, better mood, and a more easy temperament. Tube feeding was also related to positive behavior, since participants with a history of tube feeding showed less intense behavior. Cerebral deficits were associated with three problem behaviors: more intense and withdrawn behavior and a worse mood. Deaf-blindness was associated with developmental delays in expressive and overall communication level, and recurrent middle ear infections correlated with delays in written language. Of all medical conditions, only the presence or absence of heart defects and cardiac surgery could differentiate between the participants with regard to the number of behavioral problems. Participants with heart surgery especially, had less behavior problems. The number of operations and hospitalizations was not associated with behavior, but the total length of the hospitalizations was. Long hospital stays were associated with less problem behavior, especially internalizing behaviors. Cerebral and heart problems did not result in longer hospital stays, whereas esophageal reflux did. Age effects were reflected in older participants, who showed more internalizing problems. Heart surgery and hospitalization may be protective factors, but the protection might not be the actual surgery or hospital stay, as there may be other variables that are the actual cause, such as reduced vitality or altered parent child interactions after heart surgery. The study could not confirm a significant association between medical conditions and autism found in previous studies.

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics

“…As mentioned by Blake et al ( 2005 ) and Vervloed et al ( 2006 ), it is difficult to describe the typical CHARGE person because the characteristics are so highly variable. Our sample was also heterogeneous with regard to physical and behavioral problems, for example only 13% of the measured behavioral problems were exhibited by more than half of the participants.…”

“…Persons with CHARGE syndrome vary widely in the combination of physical problems present as well as their level of functioning and behavioral characteristics (Blake et al 2005 ; Vervloed et al 2006 ). The level of functioning ranges from profound intellectual disability (ID) to normal intelligence, but a substantial proportion seem to function in the lower range (Johansson et al 2006 ; Salem-Hartshorne and Jacob 2005 ; Smith et al 2005 ).…”

“…Results regarding the occurrence of aggression are contradictory (Blake et al 2005 ; Graham et al 2005 ; Johansson et al 2006 ). The behavioral problems seem to be more manifest in older persons (Hartshorne and Cypher 2004 ; Vervloed et al 2006 ). Some studies, however, report low rates of behavioral problems (Graham et al 2005 ; Smith et al 2005 ).…”

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head‐to‐toe

“…Another study found that GERD, combined with feeding and breathing difficulties, was a significant risk factor for early mortality in CHARGE syndrome (Bergman et al, 2010). Esophageal reflux has also been shown to be a significant predictor of longer hospital stays in this genetic disorder (Vervloed, Hoevenaars-van den Boom, van Ravenswaaij, & Ronald Admiraal, 2006 fundoplication failure has been found to be herniation into the posterior mediastinum. Even after surgery, many continue to need medical management of symptoms.…”

Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

“…We consider this a possible comorbid condition in a few cases, but not useful as a diagnostic criterion given the difficulty of diagnosing autism in the presence of poor sensory integration and lack of sensory input in individuals with deaf‐blindness. Further, the literature suggests that behaviors presented in CHARGE syndrome are indicative of multiple sensory impairments and not ASD [Vervloed et al, ]. While some of the stereotyped behaviors individuals with CHARGE syndrome engage in are similar to those in children with ASD (i.e., rocking, eye pressing/poking, spinning, jumping, gazing), the function of these behaviors for individuals with CHARGE syndrome may be better explained by the visual/hearing impairments and other sensory related deficits they experience and must compensate for [Fazzi et al, ; Johanasson et al, ].…”