Fifteen-minute consultation: approach to a child with congenital insensitivity to pain
The hereditary sensory and autonomic neuropathies (HSANs) are a group of rare genetic disorders characterised by variable phenotypic expression affecting both sensory and autonomic dysfunction. Diagnosing these conditions can be a challenge as the presenting symptoms can be diverse and may overlap....
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2024
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| Online Access: | http://irep.iium.edu.my/112026/7/112026_Fifteen-minute%20consultation%20approach%20to%20a%20child.pdf http://irep.iium.edu.my/112026/ https://ep.bmj.com/content/early/2024/04/30/archdischild-2023-326479.full https://doi.org/10.1136/archdischild-2023-326479 |
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my.iium.irep.1120262024-09-03T00:55:14Z http://irep.iium.edu.my/112026/ Fifteen-minute consultation: approach to a child with congenital insensitivity to pain Anuar, Muhamad Azamin Whitehouse, Emily Rose Varma, Uma McCullagh, Gary Hughes, Imelda RJ Pediatrics RJ365 Pain in children RJ370 Disease of children The hereditary sensory and autonomic neuropathies (HSANs) are a group of rare genetic disorders characterised by variable phenotypic expression affecting both sensory and autonomic dysfunction. Diagnosing these conditions can be a challenge as the presenting symptoms can be diverse and may overlap. This often leads to a delay in referral and diagnosis. Pain is often used by clinicians as a marker for systemic diseases. The key feature of HSAN conditions is the absence of pain perception and its consequences such as unexplained injuries. When a child presents with an unexplained injury, a diagnosis of non-accidental injuries must be considered, but rarely HSAN could be a possibility. The diagnosis of HSANs in children is both important and rare. This article aims to discuss an approach to the diagnosis and management of HSANs BMJ Publishing Group 2024-04-30 Article PeerReviewed application/pdf en http://irep.iium.edu.my/112026/7/112026_Fifteen-minute%20consultation%20approach%20to%20a%20child.pdf Anuar, Muhamad Azamin and Whitehouse, Emily Rose and Varma, Uma and McCullagh, Gary and Hughes, Imelda (2024) Fifteen-minute consultation: approach to a child with congenital insensitivity to pain. Archives of Disease in Childhood: Education and Practice Edition, 109 (2). pp. 1-6. ISSN 1743-0585 E-ISSN 1743-0593 https://ep.bmj.com/content/early/2024/04/30/archdischild-2023-326479.full https://doi.org/10.1136/archdischild-2023-326479 |
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| language |
English |
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RJ Pediatrics RJ365 Pain in children RJ370 Disease of children |
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RJ Pediatrics RJ365 Pain in children RJ370 Disease of children Anuar, Muhamad Azamin Whitehouse, Emily Rose Varma, Uma McCullagh, Gary Hughes, Imelda Fifteen-minute consultation: approach to a child with congenital insensitivity to pain |
| description |
The hereditary sensory and autonomic neuropathies (HSANs) are a group of rare genetic disorders characterised by variable phenotypic expression affecting both sensory and autonomic dysfunction. Diagnosing these conditions can be a challenge as the presenting symptoms can be diverse and may overlap. This often leads to a delay in referral and diagnosis. Pain is often used by clinicians as a marker for systemic diseases. The key feature of HSAN conditions is the absence of pain perception and its consequences such as unexplained injuries. When a child presents with an unexplained injury, a diagnosis of non-accidental injuries must be considered, but rarely HSAN could be a possibility. The diagnosis of HSANs in children is both important and rare. This article aims to discuss an approach to the diagnosis and management of HSANs |
| format |
Article |
| author |
Anuar, Muhamad Azamin Whitehouse, Emily Rose Varma, Uma McCullagh, Gary Hughes, Imelda |
| author_facet |
Anuar, Muhamad Azamin Whitehouse, Emily Rose Varma, Uma McCullagh, Gary Hughes, Imelda |
| author_sort |
Anuar, Muhamad Azamin |
| title |
Fifteen-minute consultation: approach to a child with congenital
insensitivity to pain |
| title_short |
Fifteen-minute consultation: approach to a child with congenital
insensitivity to pain |
| title_full |
Fifteen-minute consultation: approach to a child with congenital
insensitivity to pain |
| title_fullStr |
Fifteen-minute consultation: approach to a child with congenital
insensitivity to pain |
| title_full_unstemmed |
Fifteen-minute consultation: approach to a child with congenital
insensitivity to pain |
| title_sort |
fifteen-minute consultation: approach to a child with congenital
insensitivity to pain |
| publisher |
BMJ Publishing Group |
| publishDate |
2024 |
| url |
http://irep.iium.edu.my/112026/7/112026_Fifteen-minute%20consultation%20approach%20to%20a%20child.pdf http://irep.iium.edu.my/112026/ https://ep.bmj.com/content/early/2024/04/30/archdischild-2023-326479.full https://doi.org/10.1136/archdischild-2023-326479 |
| _version_ |
1809136349495689216 |
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13.211869 |