SINGAPORE \u2013 Mother-of-three Tiffany Tan first noticed that her middle child Tabitha, then seven months old, constantly shook her head.<\/p>\n
Concerned that this could be a sign of seizure, the housewife and her husband Joshua Lowe consulted a paediatrician, who said the child did not have seizure.<\/p>\n
Tan recalled: \u201cTabitha was also physically smaller when she was born and was not hitting her milestones. For instance, she did not walk until she was two and she does not like milk.<\/p>\n
\u201cWhen I brought this up, relatives told me it was normal for some babies to be slower and that I was too gancheong <\/i>(Cantonese for anxious),\u201d the 34-year-old said.<\/p>\n
\u201cI started to doubt myself, but it was after I posted my concerns on my Instagram account that friends, who are in the healthcare industry, told me usually a mother\u2019s instinct is right, and that I should take her to a child development specialist.\u201d<\/p>\n
Tan took her daughter to the specialist, who recommended developmental and genetic tests.<\/p>\n
\u201cIt was a long journey to get to the diagnosis<\/span><\/a>. Tabitha went through several tests with no answers or signs of anything out of the ordinary until we managed to get a consultation with Dr Nikki Fong,\u201d Tan said.<\/p>\n Fong, a geneticist with KK Women\u2019s and Children\u2019s Hospital (KKH), diagnosed Tabitha with Okur-Chung neurodevelopmental syndrome (OCNDS). The rare genetic condition affects the development of the nervous system because of changes in a gene (CSNK2A1) that creates a protein crucial for development.<\/p>\n Fong said individuals with the condition can have a spectrum of symptoms, including global developmental delay, mild-to-moderate intellectual disability, decreased muscle tone and behavioural issues like aggression and tantrums.<\/p>\n \u201cThey may also have different physical features from their peers, such as a smaller head and a short stature. Other clinical features include feeding difficulties in infancy, seizures and congenital heart abnormalities,\u201d she added.<\/p>\n Tabitha is one of more than 370 patients worldwide diagnosed with the condition, which is estimated to affect one in every 100,000 people. She is one of only three known cases in Singapore. The Straits Times understands the other two patients are in their teens.<\/p>\n OCNDS was identified only in 2016 by American geneticists Volkan Okur and Wendy Chung, with the first paper published in peer-reviewed medical journal Human Genetics that year.<\/p>\n Fong told ST: \u201cIndividuals can have this condition as a result of an inherited variant, or a de novo <\/i>(spontaneous) change. Tabitha\u2019s (condition) was found to be de novo, as her parents did not carry this change. Therefore, the risk of it recurring in future offspring is predicted to be low.\u201d<\/p>\n As there is no known treatment, \u201cmanagement is symptomatic, with supportive treatment of medical issues and initiation of early intervention to support development of the child\u201d, she added.<\/p>\n Fong said Tabitha was first seen by the KKH genomics team at 10 months old, allowing her to have access to early intervention services, and evaluation for other health conditions that can occur alongside OCNDS.<\/p>\n Housewife Tiffany Tan intends to homeschool daughter Tabitha Lowe when she reaches school-going age. Tabitha, three, is one of more than 370 patients worldwide diagnosed with Okur-Chung neurodevelopmental syndrome.<\/p>\n ST PHOTO: KEVIN LIM<\/p>\n<\/figcaption><\/figure>\n \u201cAs she had feeding difficulties in infancy, she required interventions from the feeding clinic to ensure adequate nutrition and hydration,\u201d the geneticist noted.<\/p>\n At 13 months, Tabitha underwent trio whole exome sequencing, which analyses the protein-coding parts of DNA from her and her parents. The test helped the family find answers for her global developmental delay and gain greater clarity about her prognosis.<\/p>\n According to Fong, Tabitha\u2019s condition is mild, but she still \u201crequires ongoing support for her developmental needs to optimise her potential\u201d. Her challenges include speech delays and motor difficulties.<\/p>\n \u201cShe should also be reviewed to assess signs of feeding issues, new neurologic manifestations such as seizures and movement disorders, and be monitored for developmental progress, behavioural and educational needs,\u201d Fong added.<\/p>\n Now three years old, Tabitha attends a mainstream pre-school, while receiving services at an Early Intervention Programme for Infants and Children centre. She undergoes speech, occupational and physical therapies, and also learns daily living skills.<\/p>\n Tabitha undergoes therapy to help her learn. Her father Joshua Lowe often reads to her.<\/p>\n ST PHOTO: KEVIN LIM<\/p>\n<\/figcaption><\/figure>\n She will need to be reassessed before school-going age to determine suitable schooling options, and whether a deferment from primary school may be necessary.<\/p>\n \u201cHer condition is mild… it is not severe enough for Special Education school. She also does not fit into mainstream, which will probably be too fast-paced for her and will become a real concern,\u201d Tan said.<\/p>\n \u201cThe best choice would be to homeschool her. This way, I hope to be able to draw out her potential at her own pace.\u201d<\/p>\n<\/div>\n SINGAPORE \u2013 Mother-of-three Tiffany Tan first noticed that her middle child Tabitha, then seven months old, constantly shook her head. Concerned that this could be…<\/p>\n","protected":false},"author":1,"featured_media":60482,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"fifu_image_url":"","fifu_image_alt":"","footnotes":""},"categories":[2611],"tags":[],"class_list":["post-60481","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-buzz-headlines","wpcat-2611-id"],"_links":{"self":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts\/60481","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=60481"}],"version-history":[{"count":0,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts\/60481\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/media\/60482"}],"wp:attachment":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=60481"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=60481"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=60481"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}<\/picture><\/div>
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