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Book ; Online ; E-Book: CHARGE Syndrome

Hartshorne, Timothy S. / Hefner, Margaret A. / Blake, Kim D.

2021

Author's details	Timothy S. Harthorne, Margaret A. Hefner, Kim D. Blake
Keywords	Electronic books
Language	English
Size	1 Online-Ressource (xxvi, 528 Seiten)
Edition	Second edition
Publisher	Plural Publishing
Publishing place	San Diego
Publishing country	United States
Document type	Book ; Online ; E-Book
Note	Description based on publisher supplied metadata and other sources
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT020708987
ISBN	978-1-63550-657-0 ; 9781635502909 ; 1-63550-657-3 ; 163550290X
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Case 6: Abdominal Pain in a Recently Immigrated 10-year-old Girl.

Hudson, Alexandra / Blake, Kim

Pediatrics in review

2018 Volume 39, Issue 1, Page(s) 42

MeSH term(s)	Abdominal Pain/etiology ; Child ; Female ; Gallstones/complications ; Gallstones/diagnosis ; Humans
Language	English
Publishing date	2018-01
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	774515-1
ISSN	1526-3347 ; 0191-9601
ISSN (online)	1526-3347
ISSN	0191-9601
DOI	10.1542/pir.2016-0049
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Article ; Online: New Feeding Assessment Scale for individuals with genetic syndromes: Validity and reliability in the CHARGE syndrome population.

Hudson, Alexandra S / Stratton-Gadke, Kasee / Hatchette, Jill / Blake, Kim D

Journal of paediatrics and child health

2021 Volume 57, Issue 8, Page(s) 1234–1243

Abstract: Aim: To develop a feeding scale for parents/care givers of individuals of all ages with genetic syndromes experiencing extensive feeding and swallowing problems. Second, to assess its validity and reliability in CHARGE syndrome.: Methods: The new ... ...

Abstract	Aim: To develop a feeding scale for parents/care givers of individuals of all ages with genetic syndromes experiencing extensive feeding and swallowing problems. Second, to assess its validity and reliability in CHARGE syndrome. Methods: The new Feeding Assessment Scale (FAS) was adapted from a scale for children who need prolonged tube feeding (Paediatric Assessment Scale for Severe Feeding Problems, PASSFP). Ten parents piloted the new scale before it was sent out with the PASSFP and feeding history questions. A subset completed the new scale again 4-8 weeks later. Results: One hundred parents of individuals with CHARGE syndrome participated from around the world. The new scale had good construct validity, with a significant effect for an increased number of feeding risk factors having higher scale scores (P < 0.001). Face validity was high, as scores significantly differed between individuals whose parents identified their feeding difficulties as very mild, mild, moderate, severe and very severe (P < 0.001). Test-retest reliability (r = 0.94, P < 0.001) and internal consistency (Cronbach's alpha 0.91) were both high. There was significant convergent validity between the new scale and the PASSFP (r = -0.79, P < 0.001). Conclusions: This new tool is reliable and valid for parents/care givers of individuals with CHARGE syndrome. It can be used to assess the current severity of feeding difficulties and to track progress before and after treatment. It expands upon previous existing tools in that it can be used in both individuals who are not tube fed, as well as in those who are, as well as across the life-span.
MeSH term(s)	CHARGE Syndrome/diagnosis ; CHARGE Syndrome/genetics ; Caregivers ; Child ; Humans ; Parents ; Psychometrics ; Reproducibility of Results ; Surveys and Questionnaires
Language	English
Publishing date	2021-03-08
Publishing country	Australia
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.15434
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Article ; Online: Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe.

Blake, Kim D / Hudson, Alexandra S

American journal of medical genetics. Part C, Seminars in medical genetics

2017 Volume 175, Issue 4, Page(s) 496–506

Abstract: CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, ...

Abstract	CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria. Over 90% of individuals experience feeding and gastrointestinal dysfunction, which carries great morbidity and mortality. The aim of this review is to examine the nature of gastrointestinal (GI) symptoms and feeding difficulties in CHARGE syndrome, focusing on their underlying pathology, associated investigations, and available treatment options. We also provide information on available tools (for parents, clinicians, and researchers) that are important additions to the lifelong healthcare management of every individual with CHARGE syndrome. We review how cranial nerve dysfunction is one of the most important characteristics underlying the pervasive GI and feeding dysfunction, and discuss the need for future research on gut innervation and motility in this genetic disorder.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Animals ; CHARGE Syndrome/diagnosis ; CHARGE Syndrome/etiology ; CHARGE Syndrome/therapy ; Cranial Nerve Diseases/genetics ; Cranial Nerve Diseases/physiopathology ; Feeding and Eating Disorders/etiology ; Female ; Gastrointestinal Motility/genetics ; Gastrointestinal Tract/abnormalities ; Gastrointestinal Tract/physiopathology ; Phenotype
Language	English
Publishing date	2017
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31586
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Article: A case report and literature review: Factitious disorder imposed on another and malingering by proxy.

Walters, Ilana C / MacIntosh, Rachel / Blake, Kim D

Paediatrics & child health

2019 Volume 25, Issue 6, Page(s) 345–348

Abstract: Factitious disorder imposed on another (FDIA) and malingering by proxy (MAL-BP) are two forms of underreported child maltreatment that should remain on physicians' differential. This case of a 2-year-old boy, which spans 6 years, reveals the complexity ... ...

Abstract	Factitious disorder imposed on another (FDIA) and malingering by proxy (MAL-BP) are two forms of underreported child maltreatment that should remain on physicians' differential. This case of a 2-year-old boy, which spans 6 years, reveals the complexity in and difficulties with diagnosis. Key features include the patient's mother using advanced medical jargon to report multiple disconnected concerns and visits to numerous providers. As a result, the patient underwent many investigations which often revealed normal findings. FDIA was suspected by the paediatrician, especially following corroboration with the child's day care and past primary health care provider. This case demonstrates the possible overlap in diagnoses, which are characterized by a lack of consistent presentation and deceitful caregivers, often complicated by true underlying illness. The authors use clinical experience and limited existing literature to empower paediatricians to confidently diagnose and report FDIA and MAL-BP to limit future harm to children.
Language	English
Publishing date	2019-06-17
Publishing country	England
Document type	Case Reports
ZDB-ID	2106767-3
ISSN	1918-1485 ; 1205-7088
ISSN (online)	1918-1485
ISSN	1205-7088
DOI	10.1093/pch/pxz053
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Article ; Online: phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes

MacLean, Jessica E. / Wertman, Jaime N. / Prykhozhij, Sergey V. / Chedrawe, Emily / Langley, Stewart / Steele, Shelby L. / Ban, Kevin / Blake, Kim / Berman, Jason N.

Genes (Basel). 2023 May 15, v. 14, no. 5

2023

Abstract: CHARGE syndrome typically results from mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). CHD7 is involved in regulating neural crest development, which gives rise to tissues of the skull/face and the autonomic nervous ... ...

Abstract	CHARGE syndrome typically results from mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). CHD7 is involved in regulating neural crest development, which gives rise to tissues of the skull/face and the autonomic nervous system (ANS). Individuals with CHARGE syndrome are frequently born with anomalies requiring multiple surgeries and often experience adverse events post-anesthesia, including oxygen desaturations, decreased respiratory rates, and heart rate abnormalities. Central congenital hypoventilation syndrome (CCHS) affects ANS components that regulate breathing. Its hallmark feature is hypoventilation during sleep, clinically resembling observations in anesthetized CHARGE patients. Loss of PHOX2B (paired-like homeobox 2b) underlies CCHS. Employing a chd7-null zebrafish model, we investigated physiologic responses to anesthesia and compared these to loss of phox2b. Heart rates were lower in chd7 mutants compared to the wild-type. Exposure to tricaine, a zebrafish anesthetic/muscle relaxant, revealed that chd7 mutants took longer to become anesthetized, with higher respiratory rates during recovery. chd7 mutant larvae demonstrated unique phox2ba expression patterns. The knockdown of phox2ba reduced larval heart rates similar to chd7 mutants. chd7 mutant fish are a valuable preclinical model to investigate anesthesia in CHARGE syndrome and reveal a novel functional link between CHARGE syndrome and CCHS.
Keywords	DNA-binding proteins ; Danio rerio ; anesthesia ; anesthetics ; autonomic nervous system ; face ; genes ; heart ; heart rate ; larvae ; models ; muscle relaxants ; mutants ; neural crest ; oxygen ; skull ; sleep
Language	English
Dates of publication	2023-0515
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14051086
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: A case of migraine treatment in a patient with a clinical diagnosis of CHARGE syndrome using onabotulinum toxin A.

Morrison, Julia B / Fisher, Bradley M / Arra, Angela / Bezuhly, Michael / Blake, Kim

American journal of medical genetics. Part A

2021 Volume 185, Issue 8, Page(s) 2514–2518

Abstract: CHARGE syndrome is a genetic disorder that affects multiple organ and sensory systems. Cranial nerve involvement is one of the key clinical diagnostic criteria. We present the case of an 8-year-old girl with CHARGE syndrome, associated right-sided facial ...

Abstract	CHARGE syndrome is a genetic disorder that affects multiple organ and sensory systems. Cranial nerve involvement is one of the key clinical diagnostic criteria. We present the case of an 8-year-old girl with CHARGE syndrome, associated right-sided facial palsy, and chronic severe migraines, that were intractable to medical treatment. At age 6, onabotulinum toxin A was used to weaken the contralateral non-paralyzed side of her face to address her stigmatizing asymmetry. Onabotulinum toxin A chemodenervation was performed on the left lower lip depressors to relax the muscles and improve left lower lip position. Coincidentally, it was noted that with these treatments, migraine symptoms resolved. As the chemodenervation subsided over the next 3-4 months, the severe migraines returned. Continued treatment with onabotulinum toxin A injections every 3 months has resulted in ongoing improvements in facial symmetry and migraine control. Onabotulinum toxin A is a well-known treatment of chronic migraine. Injections are usually directed to the occipitalis, frontalis, and corrugator muscles. The literature has no reports of injections to the lower lip depressors as a useful therapy for migraine, making the results from this case unique.
MeSH term(s)	Botulinum Toxins, Type A/administration & dosage ; CHARGE Syndrome/complications ; CHARGE Syndrome/diagnosis ; CHARGE Syndrome/genetics ; Child ; DNA Helicases/genetics ; DNA-Binding Proteins/genetics ; Disease Management ; Disease Susceptibility ; Facies ; Female ; Humans ; Migraine Disorders/diagnosis ; Migraine Disorders/etiology ; Migraine Disorders/therapy ; Mutation ; Sympathectomy, Chemical/methods ; Symptom Assessment ; Treatment Outcome
Chemical Substances	DNA-Binding Proteins ; Botulinum Toxins, Type A (EC 3.4.24.69) ; onabotulinum toxin A (EC 3.4.24.69) ; DNA Helicases (EC 3.6.4.-) ; CHD7 protein, human (EC 3.6.4.12)
Language	English
Publishing date	2021-05-18
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62340
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Article: Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome.

Hudson, Alexandra / Blake, Kim

Journal of clinical medicine research

2015 Volume 8, Issue 1, Page(s) 56–58

Abstract: 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 ... ...

Abstract	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.
Language	English
Publishing date	2015-12-03
Publishing country	Canada
Document type	Case Reports
ZDB-ID	2548987-2
ISSN	1918-3011 ; 1918-3003
ISSN (online)	1918-3011
ISSN	1918-3003
DOI	10.14740/jocmr2288w
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Article: Canadian medical schools' preclerkship paediatric clinical skills curricula: How can we improve?

Hudson, Alexandra / Mclaughlin, Robyn / Miller, Stephen / Holland, Joanna / Blake, Kim

Paediatrics & child health

2019 Volume 25, Issue 8, Page(s) 505–510

Abstract: Background: Little is known about how Canadian medical schools teach paediatric clinical skills (history and physical exam) to preclerkship students, or its cost to the institutions.: Methods: Clinical skills program directors from all 17 Canadian ... ...

Abstract	Background: Little is known about how Canadian medical schools teach paediatric clinical skills (history and physical exam) to preclerkship students, or its cost to the institutions. Methods: Clinical skills program directors from all 17 Canadian medical schools were contacted to complete a questionnaire focused on teaching methods, and barriers/strengths of their Preclerkship Paediatric Clinical Skills program. Results: Seventeen schools (100% response rate) participated. Seven schools (41%) do not introduce paediatric clinical skills until the second year of medicine. Half of the schools (53%) dedicate <10 total hours to preclerkship paediatric clinical skills. Fifty-nine per cent have ≤6 total hours of hands-on paediatric patient interaction (real or simulated). Medical students were least likely to be exposed to the infant age group (age 1 to 24 months). Twelve schools (71%) used simulated parent/child dyads. The most significant barriers identified by programs were limited time for sessions and patient availability. We describe one sample medical school's simulated parent/paediatric patient program where every student has hands-on learning with paediatric patients of all ages (program cost $938/student). Discussion: This study is the first to summarize Canadian preclerkship paediatric clinical skills programs, among which there is great variability and commonly experienced barriers. Many students are not being exposed to all age groups of paediatric patients before their clerkship years. Medical schools can use this information to strengthen this important and challenging aspect of the curriculum, while being mindful of its fiscal implications.
Language	English
Publishing date	2019-10-06
Publishing country	England
Document type	Journal Article
ZDB-ID	2106767-3
ISSN	1918-1485 ; 1205-7088
ISSN (online)	1918-1485
ISSN	1205-7088
DOI	10.1093/pch/pxz106
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Article ; Online: CHARGE Syndrome.

Hudson, Alexandra / Trider, Carrie-Lee / Blake, Kim

Pediatrics in review

2017 Volume 38, Issue 1, Page(s) 56–59

MeSH term(s)	CHARGE Syndrome/diagnosis ; CHARGE Syndrome/therapy ; Child ; Child, Preschool ; Disease Management ; Humans ; Infant
Language	English
Publishing date	2017-01
Publishing country	United States
Document type	Editorial
ZDB-ID	774515-1
ISSN	1526-3347 ; 0191-9601
ISSN (online)	1526-3347
ISSN	0191-9601
DOI	10.1542/pir.2016-0050
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