Alexandra Hudson

Pocketing of food in cheeks during eating in an adolescent with CHARGE syndrome.

We would like to draw your attention to a problematic feeding behaviour that has not previously been described in CHARGE syndrome. A 17-year-old female adolescent with a confirmed genetic diagnosis of CHARGE syndrome and many of the typical physical features of the genetic disorder (Table 1) presented to her general paediatrician’s clinic with problems of over-stuffing her mouth and holding food in her cheeks during eating, which had led to choking incidents. The adolescent had experienced choking episodes during eating several times a year and had two severe choking episodes during her life that required the Heimlich maneuver to dislodge food. Past medical history revealed that she was tube-fed until 13 years of age. Oral feeding was introduced at the age of 3 years. She continuously over-stuffed her mouth with all food textures and would pocket the food both in her cheeks and palate. Previous swallow studies had identified an unusual chewing pattern and uncoordinated swallow pattern where she double or triple swallowed for every bite. The adolescent needed close supervision, as well as a continuous reminder to chew and swallow, at each meal. The adolescent had extensive feeding therapy over her life, which included a speech language pathologist, occupational therapist and psychologist, but it did not successfully resolve her food pocketing feeding behaviour. Pocketing of food in cheeks or food packing has been described in the current literature as holding accepted food in the mouth without swallowing. This eating behaviour has previously been described in children with autism. Feeding and swallowing problems are seen in many (>70%) infants with CHARGE syndrome, and of these, the majority have to be tube fed at some point. Many feeding issues seen in CHARGE syndrome such as problems with chewing, swallowing, reflux and aspiration may be due to cranial nerve dysfunction. Chaser use, food re-distribution and manipulation of food textures have been described in the literature as beneficial ways to reduce food pocketing in children with autism. This is the first case to document food pocketing in an individual with CHARGE syndrome. It is important that feeding team therapy members and clinicians are aware of such eating behaviours in individuals with CHARGE syndrome, in addition to the already well-established physical features and symptoms of the syndrome. Clinicians should specifically target feeding therapy interventions to address food pocketing, as this feeding behaviour can still persist despite extensive general feeding therapy.

Quality of life in adolescents and adults with CHARGE syndrome

Health‐related Quality of Life and the Impact of Childhood Neurologic Disability Scale were collected for 53 patients with CHARGE syndrome aged 13–39 years with a mean academic level of 4th grade. The most prevalent new and ongoing issues included bone health issues, sleep apnea, retinal detachment, anxiety, and aggression. Sleep issues were significantly correlated with anxiety, self‐abuse, conduct problems, and autistic‐like behaviors. Problems with overall health, behavior, and balance most affected the number of social activities in the individuals life. Sensory impairment most affected relationships with friends. Two contrasting case studies are presented and demonstrate that the quality of life exists on a broad spectrum in CHARGE syndrome, just as its physical features range from mild to very severe. A multitude of factors, including those beyond the physical manifestations, such as anxiety and sleep problems, influence quality of life and are important areas for intervention.

CHARGE syndrome gastrointestinal involvement: from mouth to anus

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.

Pre-existing psychiatric disorder in the burn patient is associated with worse outcomes

OBJECTIVE To compare patient and burn characteristics between patients who had a pre-existing psychiatric diagnosis and patients who did not in a Burn Unit at an academic hospital. BACKGROUND Psychosocial issues are common in patients recovering from a burn; however, little is known regarding hospital course and discharge outcomes in patients with a pre-existing psychiatric diagnosis presenting with a burn. Baseline medical comorbidities of burn patients have been shown to be a significant risk for in-hospital mortality. METHODS A retrospective chart review of 479 consecutive patients admitted to the Burn Unit of an academic hospital in Halifax, Nova Scotia between March 2nd 1995 and June 1st 2013 was performed. Extensive data regarding patient and burn characteristics and outcomes was collected. Patients with and without pre-existing psychiatric diagnoses at the time of hospital admission were compared. RESULTS Sixty-three (13%) patients had a psychiatric diagnosis, with the most common being depression (52%). Forty-percent (n=25/63) of these patients had multiple pre-existing psychiatric diagnoses. Patients with a psychiatric diagnosis had a greater total-body-surface-area (TBSA)% covered by a third-degree burn (p=0.001), and were more likely to have an inhalation injury (p<0.001). These patients were also significantly more likely to experience 6 of the 10 most prevalent in-hospital complications and had a higher mortality rate (p=0.02). They were less likely to be discharged home (p=0.001), and more likely to go to a home hospital (p=0.04) or rehabilitation facility (p=0.03). Psychiatric diagnosis was associated with significantly more placement issues (e.g. rehab bed unavailability, homeless) upon discharge from the Burn Unit (p=0.01). The risk of death in burn patients with pre-existing psychiatric disorders was about three times the risk of death in patients with no psychiatric disorders when adjusting for other potential confounders (95% CI, 1.13-9.10; p-value 0.03). CONCLUSION Presence of a pre-existing psychiatric disorder in the burn patient was associated with worse outcomes and was a significant predictor of death. Psychiatric diagnoses should be identified early in burn treatment and efforts should be made to ensure a comprehensive approach to inpatient support and patient discharge to reduce unfavorable burn outcomes and placement issues.

Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome

Feeding and swallowing difficulties are common among individuals with CHARGE syndrome. Many children require gastrostomy tube feeding in their early years and often undergo a delay in feeding and oral-motor skill development. There is little information available on adults with CHARGE syndrome, and the feeding difficulties they face. The present case describes newly emerging mouth over-stuffing feeding behaviors and feeding difficulties in a 33-year-old adult with CHARGE syndrome who had not undergone feeding therapy since childhood.

Adolescent narrative comments in assessing medical students

Adolescent medical interviewing is a difficult topic to teach and assess. Programmatic assessment has been gaining interest in medical teaching, and shifts the mode of assessment from the traditional assessment of learning (e.g. written exams) to the assessment for learning (e.g. feedback). The Structured Communication Adolescent Guide (SCAG) is a programmatic assessment tool that allows an adolescent patient to provide three types of feedback (written, numeric, grade) to a medical student in an authentic clinical workplace.

Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome

Feeding issues are very common in individuals with CHARGE syndrome and can lead to increased morbidity and mortality. The aim of this study was to expand upon the limited knowledge base of feeding and gastrointestinal issues in individuals with CHARGE syndrome. Parents of individuals (age range 1–18 years) with CHARGE syndrome, with or without feeding/gastrointestinal issues, were recruited through international CHARGE syndrome associations and CHARGE syndrome Facebook pages. Parents completed three questionnaires: CHARGE diagnostic characteristics; Pediatric Assessment Scale for Severe Feeding Problems

Amber jewellery: A dangerous popular trend for toddlers during their teething months and beyond.

We would like to draw your attention to the problematic popularity of amber teething necklaces being worn by infants and toddlers, despite their risk as a choking hazard. In our Paediatrics clinic in Eastern Canada, we have recently seen two cases of amber teething necklaces worn by infants. These cases each highlight an important issue for physicians to be aware of. Amber is an alternative health product that is often sold as a bracelet or necklace to be worn by an infant or child purportedly to reduce pain associatedwith teething (Fig. 1). Companies selling amber teething jewelry have claimed that it results in numerous benefits in addition to pain relief, such as reducing inflammation and stimulating the thyroid, despite a lack of scientific evidence. In addition to a lack of evidence regarding the benefits, these necklaces carry a significant risk of strangulation and choking.

Diffuse Cutaneous Bullous Mastocytosis and Disseminated Intravascular Coagulation Postvaccination: A Case Report.

Background: Diffuse cutaneous bullous mastocytosis is the most rare subtype of cutaneous mastocytosis, characterized by generalized skin infiltration with mast cells and blistering. Objective: To increase the awareness of the natural history and potential adverse complications of this rare cutaneous condition. Method and Results: We report a case of a male diagnosed on day 7 of life with follow-up of his progression over 6 years. When he was 2.5 months old, he was admitted to hospital postvaccinations with a flare of his blistering that was complicated by disseminated intravascular coagulation and polyuric acute tubular necrosis. Blistering ceased at 3 years, but at 6 years, extensive urtication continued in response to known triggers and a suboptimal dose of mast cell membrane stabilizers and histamine-1 and -2 receptor antagonists. Conclusion: This case discusses the progression of this rare condition over 6 years and highlights the importance of reaching optimal pharmacologic blockage of histamine-1 and -2 receptors and stabilization of mast cell membranes in patients persistently experiencing ongoing pruritus, urtication, and flushing symptoms.

Abstract: Discrepancies between Registered and Published Primary and Secondary Outcomes in Randomized Controlled Trials within the Plastic Surgery Literature

PURPOSE: Myelomeningocele is the most common congenital malformation of the central nervous system, with a prevalence of 4.4 to 4.6 per 10,000 live births in the United States. They are most commonly observed in the lumbosacral region, as this is the last region of the neural tube to fuse. Robust, reliable and reproducible closure of lumbosacral myelomeningocele defects remains a challenge. Closure of spinal defects following neurosurgical procedures with well-vascularized flaps in high-risk patients has been shown to reduce complications in the adult population. In infants with lumbosacral myelomeningocele, in addition to the relatively standard neurosurgical repair that consists of placode tubularization and dural repair, multiple methods of soft tissue coverage have been described. These include various cutaneous, fascial and muscle flaps and grafts. We present here our unique closure technique with well-vascularized flaps following lumbosacral myelomeningocele repair. METHODS: After the neurosurgical repair of lumbosacral myelomeningocele is completed, bilateral composite latissimus dorsi musculocutanous and gluteus maximus fasciocutanous flaps are elevated. The gluteus maximus fasciocutaneous flaps are completely elevated from their insertion on the ileum and sacrum. The paraspinous muscle flaps are then elevated and medialized based on the lateral row arterial perforators to provide complete muscular coverage of the dural repair. The bilateral composite latissimus dorsi muscleocutanous and gluteus maximus fasciocutanous flaps are medialized, reapproximated with the sacrum, and closed over the paraspinous muscle flap repair.