The Experts below are selected from a list of 246 Experts worldwide ranked by ideXlab platform
Jennifer Friedman - One of the best experts on this subject based on the ideXlab platform.
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Failure to Thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
BMC neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Rose N Gelineau-morel, Shimul Chowdhury, Jennifer FriedmanAbstract:Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Conclusion Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
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Failure to Thrive an overlooked manifestation of kmt2b related dystonia a case presentation
BMC Neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Shimul Chowdhury, Jennifer Friedman, Rose N GelineaumorelAbstract:KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
Serena Galosi - One of the best experts on this subject based on the ideXlab platform.
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Failure to Thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
BMC neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Rose N Gelineau-morel, Shimul Chowdhury, Jennifer FriedmanAbstract:Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Conclusion Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
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Failure to Thrive an overlooked manifestation of kmt2b related dystonia a case presentation
BMC Neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Shimul Chowdhury, Jennifer Friedman, Rose N GelineaumorelAbstract:KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
David Skuse - One of the best experts on this subject based on the ideXlab platform.
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Epidemiologic and Definitional Issues in Failure to Thrive
Child and Adolescent Psychiatric Clinics of North America, 1993Co-Authors: David SkuseAbstract:Failure to Thrive is usually a symptom of chronic undernutrition. Recent evidence suggests that relatively distinct syndromes, of which poor growth is but one aspect, can be differentiated. The former organic-nonorganic dichotomy is misleading and outdated. For example, subtle physiologic disorders such as oralmotor dysfunction may contribute to the cause of many cases of so-called nonorganic Failure to Thrive. Furthermore, the psychosocial correlates of the condition, such as the degree of association with abuse and neglect, appear different when viewed from the contrasting perspectives of hospital and community studies. Future research studies must address more rigorously methodologic issues such as sampling and case definition.
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Failure to Thrive: Current perspectives
Current Paediatrics, 1992Co-Authors: David SkuseAbstract:The term ‘Failure to Thrive’ should refer, purely and simply, to the problem of Failure to grow in accordance with expectations. It is a symptom, and a presenting problem, and may have a myriad of causes. For the sake of clarity, and to minimise confusion with other related disorders such as psychosocial dwarfism, the expression should be reserved for the description of infant growth (i.e. under 2 years of age). Usually the growth retardation is defined in terms of lack of appropriate weight gain. However the parameters of poor growth are defined, it is unlikely that any clearcut aetiology, in terms of physical (or organic) disease or disorder, will be discovered in most cases. For many years a distinction was made between ‘organic’ and ‘non-organic’ Failure to Thrive. This dichotomy is unwarranted and unwise. Paediatricians now realise that in all cases of nonorganic Failure to Thrive (NOFT) and in most cases of organic Failure to Thrive (FTT), the primary biologic insult is undernutrition. For many children with serious medical illnesses such as congenital heart disease, cerebral palsy, and gastrointestinal disorders a major cause of the associated growth Failure is a nutritional intake that is insufficient to maintain a normal rate of weight gain. In cases of Failure to Thrive that are associated with inadequate parenting, including neglect and abuse, the cause of the associated growth impairment is not emotional but caloric deprivation.’ Having emphasised that growth Failure is the essential symptom, the question arises what degree of growth retardation should arouse clinical concern? This is a contentious issue but some guidelines may
Caitlin Schwager - One of the best experts on this subject based on the ideXlab platform.
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Failure to Thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
BMC neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Rose N Gelineau-morel, Shimul Chowdhury, Jennifer FriedmanAbstract:Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Conclusion Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
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Failure to Thrive an overlooked manifestation of kmt2b related dystonia a case presentation
BMC Neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Shimul Chowdhury, Jennifer Friedman, Rose N GelineaumorelAbstract:KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
Shimul Chowdhury - One of the best experts on this subject based on the ideXlab platform.
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Failure to Thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
BMC neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Rose N Gelineau-morel, Shimul Chowdhury, Jennifer FriedmanAbstract:Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Conclusion Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
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Failure to Thrive an overlooked manifestation of kmt2b related dystonia a case presentation
BMC Neurology, 2020Co-Authors: Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Manickavasagam Amudhavalli, Shimul Chowdhury, Jennifer Friedman, Rose N GelineaumorelAbstract:KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with Failure to Thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. We present a case of a 15-year old female who was admitted and evaluated for Failure to Thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with Failure to Thrive. Literature review identified frequent reports of prominent bulbar involvement but Failure to Thrive is rarely mentioned. Failure to Thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of Failure to Thrive, reinforce the importance of precise molecular diagnosis for patients with Failure to Thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
