We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointest... more We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild gastro-esophageal reflux (GER), and severe constipation. Esophageal manometry studies were consistent with the diagnosis of "nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of FG syndrome, in which treatment with calcium channel blockers, produces clinical and manometric improvement. The FG syndrome is an X-linked syndrome of multiple congenital anomalies/mental retardation with facultative manifestations of gastrointestinal dysmotility, including gastro-esophageal reflux, severe feeding difficulties, and constipation. Esophageal dysmotility, in particular "nutcracker esophagus," should be suspected in infants with the FG syndrome and screaming attacks.
This study sought to identify parents' perspectives about issues relating to the provision of... more This study sought to identify parents' perspectives about issues relating to the provision of health care to their chronically ill children while they are at school. A survey of parents with school-aged children attending the paediatric subspecialty outpatients clinic in a large teaching hospital was designed to collect both qualitative and quantitative data about this topic. Findings included that 48% (n =161) of parents participating in the study said their child required some form of care or attention while at school. Highest scoring areas of need included supervision of meals (36%), administering insulin (19%), and administering nebulizers/puffers (19%). In addition, 75% of parents with children requiring health care while in school said that special knowledge and skill was required to deliver this care; 56% of these parents did not feel that teachers had the knowledge that would enable them too look after their chronically ill child during school hours.
We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointest... more We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild gastro-esophageal reflux (GER), and severe constipation. Esophageal manometry studies were consistent with the diagnosis of "nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of FG syndrome, in which treatment with calcium channel blockers, produces clinical and manometric improvement. The FG syndrome is an X-linked syndrome of multiple congenital anomalies/mental retardation with facultative manifestations of gastrointestinal dysmotility, including gastro-esophageal reflux, severe feeding difficulties, and constipation. Esophageal dysmotility, in particular "nutcracker esophagus," should be suspected in infants with the FG syndrome and screaming attacks.
This study sought to identify parents' perspectives about issues relating to the provision of... more This study sought to identify parents' perspectives about issues relating to the provision of health care to their chronically ill children while they are at school. A survey of parents with school-aged children attending the paediatric subspecialty outpatients clinic in a large teaching hospital was designed to collect both qualitative and quantitative data about this topic. Findings included that 48% (n =161) of parents participating in the study said their child required some form of care or attention while at school. Highest scoring areas of need included supervision of meals (36%), administering insulin (19%), and administering nebulizers/puffers (19%). In addition, 75% of parents with children requiring health care while in school said that special knowledge and skill was required to deliver this care; 56% of these parents did not feel that teachers had the knowledge that would enable them too look after their chronically ill child during school hours.
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