MyMedR

The Potential of ChatGPT in Assisting Children with Down Syndrome

Yang J, Por LY, Leong MC, Ku CS

Ann Biomed Eng, 2023 Dec;51(12):2638-2640.

PMID: 37332002 DOI: 10.1007/s10439-023-03281-3

ChatGPT, an advanced language generation model developed by OpenAI, has the potential to revolutionize healthcare delivery and support for individuals with various conditions, including Down syndrome. This article explores the applications of ChatGPT in assisting children with Down syndrome, highlighting the benefits it can bring to their education, social interaction, and overall well-being. While acknowledging the challenges and limitations, we examine how ChatGPT can be utilized as a valuable tool in enhancing the lives of these children, promoting their cognitive development, and supporting their unique needs.

Matched MeSH terms: Down Syndrome*

Dermatoglyphics of Down's syndrome patients in Malays--a comparative study

Than M, Myat KA, Khadijah S, Jamaludin N, Isa MN

Anthropol Anz, 1998 Dec;56(4):351-65.

PMID: 10027045

There has been no recent report on the dermatoglyphics of the Malays (normal population as well as patients with Down's syndrome). A study on the frequencies of the dermal patterns (dermatoglyphics) of the digits, palms and hallucal areas was done therefore in 40 Malay patients with Down's syndrome and 200 unrelated normal controls. Only the patients with the standard 21 trisomy karyotype were included in the study. Comparison was made with the published data on studies done in various racial groups. Significant differences of the dermal patterns were found not only between the controls but also among patients of different races.

Matched MeSH terms: Down Syndrome/ethnology; Down Syndrome/genetics*

Successful closed reduction after adductor tenotomy in a 14-year-old boy with chronic hip dislocation in Down syndrome

Sadeghilar A, Rashid AH, Ibrahim S

J Pediatr Orthop B, 2014 May;23(3):244-6.

PMID: 24445537 DOI: 10.1097/BPB.0000000000000033

Dislocation or subluxation of the hip is considered as the most common hip problem in patients with Down syndrome. Recommended treatment of chronic dislocation treatment is open reduction combined with femoral and/or pelvis osteotomies. We report a Down syndrome child with chronic hip dislocation who was successfully treated with adductor tenotomy and closed reduction, which has not been reported previously.

Matched MeSH terms: Down Syndrome/complications*

Kasabach-Merritt syndrome and Down's syndrome

Ram SP

J R Soc Med, 1997 Mar;90(3):159-60.

PMID: 9135617

Matched MeSH terms: Down Syndrome*

John Langdon Down (1828-1896) - a pioneer in caring for mentally disabled patients

Kutzsche S

Acta Paediatr, 2018 11;107(11):1851-1854.

PMID: 30028542 DOI: 10.1111/apa.14505

Matched MeSH terms: Down Syndrome/rehabilitation*

Fulltext Cardiovascular malformations in Malaysian neonates with Down's syndrome

Hoe TS, Chan KC, Boo NY

Singapore Med J, 1990 Oct;31(5):474-6.

PMID: 2148028

A prospective study was done to determine the incidence of cardiovascular malformations in neonates with Down's syndrome. 17/34 (50%) of the babies with Down's syndrome born at the Maternity Hospital, Kuala Lumpur, Malaysia had congenital heart defects. These included 7 cases of ventricular septal defect (VSD), 3 cases of patent ductus arteriosus (PDA), 2 cases of atrio-ventricular canal defect, 2 cases of ventricular septal defect with patent ductus arteriosus, 1 case of hypertrophic cardiomyopathy, 1 case of hypertrophic obstructive cardiomyopathy and 1 case of complex cyanotic heart. Only 8/17 (47%) of these babies had any clinical signs suggesting underlying cardiac defects. In view of the common occurrence of cardiac anomalies, it is recommended that echocardiographic screening should be carried out on all neonates with Down's syndrome.

Matched MeSH terms: Down Syndrome/complications*

Role of child demographic, executive functions, and behavioral challenges on feelings about parenting among parents of youth with Down syndrome

Soltani A, Esbensen AJ

Res Dev Disabil, 2024 May;148:104717.

PMID: 38479073 DOI: 10.1016/j.ridd.2024.104717

BACKGROUND: Living with a child with Down syndrome (DS) influences the entire family, including caregivers.

AIMS: This study examined positive and negative caregiver feelings about parenting youth with DS and to what extent children's demographic, cognitive, behavioral characteristics, and co-occurring medical conditions are associated with those parental feelings. Specifically, the mediatory role of child behavioral challenges on the relationship between child executive functioning (EF) and parent feelings about parenting a child with DS was examined in a mediation analysis model.

METHODS AND PROCEDURES: Parents of 113 youth with DS aged 6 to 17 year rated their positive and negative feelings about parenting, and their child's behavioral challenges and EF.

OUTCOMES AND RESULTS: Externalizing and Internalizing behavioral challenges and emotional and behavioral regulations of EF were significantly associated with positive and negative parent feelings. Child behavioral challenges fully mediated the relationship between child EF and caregiver feelings about parenting, after controlling for identified covariates of child demographics.

CONCLUSIONS AND IMPLICATIONS: Findings have implications for understanding the role of EF, through its impact on behavioral challenges, on the feelings of caregivers about parenting a child with DS. These findings play a role in understanding outcomes of interventions targeted at EF and behavioral challenges, in the context of other child variables.

Matched MeSH terms: Down Syndrome*

Fulltext Infantile Acute Megakaryoblastic Leukaemia with t(1:22) in a Non-Down Syndrome Child

Nurasyikin, Y., Shenaz, S.K., Suria, A.A., Azma, R.Z., Zarina, A.L., Hamidah, A., et al.

Medicine & Health, 2012;7(2):112-119.

MyJurnal

Megakaryoblastic leukaemia is the commonest form of leukaemia occuring in Down syndrome infants. However, it’s subtype with translocation t(1;22)(p13;q13) is uncommon comprising

Matched MeSH terms: Down Syndrome

Fulltext Recurrent epididymo-orchitis: a clinical presentation of posterior urethral valve in a child with Down syndrome

Faizah, M.Z., Noorakmal, A., Syariz, I.S., Dayang, A.A.

Medicine & Health, 2011;6(1):73-77.

MyJurnal

Posterior urethral valve (PUV) commonly presents during infancy. We report a case of a 5-year-old boy with Down syndrome who was diagnosed to have PUV in late childhood. He presented with recurrent left epididymo-orchitis, an uncommon but recognized complication of PUV. Our aim is to discuss this rare and delayed presentation of PUV in particular amongst children with Down syndrome, method of diagnosis and complication of the disease if left untreated.

Matched MeSH terms: Down Syndrome

Quality of life among Malaysian mothers with a child with Down syndrome

Geok CK, Abdullah KL, Kee LH

Int J Nurs Pract, 2013 Aug;19(4):381-9.

PMID: 23915407 DOI: 10.1111/ijn.12083

The purpose of this paper is to examine the quality of life (QOL) among mothers with a child with Down syndrome using The World Health Organization Quality of Life scale instrument. A convenience sample of 161 mothers was accessed through the various institutions which provide interventional or educational programmes to children with disabilities within two of the regions of the Borneo State of Malaysia (Sarawak). Nearly half of the group of mothers perceived their QOL as neither poor nor good (n = 73). An overall QOL score of 14.0 ± 1.84 was obtained. The highest and lowest domain scores were found for social relationship domain (Mean = 14.9 ± 2.1) and environmental support domain (Mean = 13.3 ± 2.1) respectively. Correlation analysis of selected background variables (i.e. locality, education, income and marital status) and overall QOL indicated rho (161) = 0.22-0.28 (P < 0.01). Inverse correlation between maternal age and overall QOL score was indicated, with rho (161) = -0.17 (P < 0.05). Linear regression analysis indicated that the combination of these few variables together accounted for 14.5% of the QOL variability in the sample. Findings point to implications for priorities of care provisions by policy-makers and care professionals in their practice.

Matched MeSH terms: Down Syndrome/psychology*

Maternal age-specific incidence of Down's syndrome in Malaysian neonates

Boo NY, Hoe TS, Lye MS, Poon PK, Mahani MC

J Singapore Paediatr Soc, 1989;31(3-4):138-42.

PMID: 2534718

Over an 18 month period, 34,495 livebirths were delivered in the Kuala Lumpur Maternity Hospital. 36 neonates (1.044 per 1000 livebirths) had Down's syndrome. The observed rates of Down's syndrome per 1000 livebirths by single year intervals of maternal age were calculated. By using the discontinuous slope model, our study showed that the incidence of Down's syndrome among the Malaysian liveborns increased markedly when the maternal age exceeded 35 years. This study also suggested that the Malay mothers had increased risk of producing babies with Down's syndrome at a later age than the Chinese and the Indians. However, a larger number of babies in each racial group needs to be studied to confirm this.

Matched MeSH terms: Down Syndrome/epidemiology*

Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia

Quah BS, Menon BS

Clin Genet, 1996 Oct;50(4):232-4.

PMID: 9001806

Down syndrome may be associated with many complications. Among the malignancies associated with Down syndrome, leukaemia is the most common. This is a case report of a patient with Down syndrome associated with both a retroperitoneal teratoma and a Morgagni hernia.

Matched MeSH terms: Down Syndrome/complications*

Association Between Symbolic Play and Language: A Comparison Between Typically Developing Children and Children with Down Syndrome

Joginder Singh S, Gan B, Chu SY

J Dev Behav Pediatr, 2020 10 8;42(2):146-151.

PMID: 33027107 DOI: 10.1097/DBP.0000000000000873

OBJECTIVE: Language and symbolic play require the same underlying symbolic ability and develop parallel to one another. The aim of this study was to determine the association between symbolic play and vocabulary in typically developing children and children with Down syndrome in Malaysia.

METHODS: Twenty-five typically developing children and 25 children with Down syndrome aged between 12 and 36 months were involved in this study. They were recruited from an early intervention center and various kindergartens from the West Coast of Peninsular Malaysia. Their play skills were assessed using the Symbolic Play Test Second Edition, and information about their vocabulary was obtained through the MacArthur Bates Communicative Development Inventories that was filled out by their parents.

RESULTS: There was a significant difference in the vocabulary and symbolic play scores of children with Down syndrome compared with typically developing children. There was also a positive correlation between symbolic play scores and receptive and expressive vocabulary scores for both groups of children.

CONCLUSION: When providing intervention, speech-language pathologists need to promote the development of symbolic play in addition to language, given the association between the two. They should also look into introducing an augmentative and alternative communication system to the children who demonstrate age-appropriate symbolic play skills but have trouble with symbolic language production.

Matched MeSH terms: Down Syndrome*

Fulltext Incidence of Down's syndrome in a large Malaysian maternity hospital over an 18 month period

Hoe TS, Boo NY, Clyde MM

Singapore Med J, 1989 Jun;30(3):246-8.

PMID: 2531468

Over an 18 month period, 34,522 livebirths were delivered in the Maternity Hospital, Kuala Lumpur. 36 of them had Down's Syndrome. Based on our findings, the incidence of Down's syndrome among the Malaysian babies born in this hospital was 1:959 livebirths. According to racial distributions, the incidence among Malay was 1:981 livebirths, Chinese 1:940 livebirths, and Indian 1:860 livebirths. Our incidence was lower than those from the Western populations. Unlike others' studies, there was also a female preponderance of Down's syndrome among the Malaysian babies.

Matched MeSH terms: Down Syndrome/epidemiology*

Interactions of pre-symbolic children with developmental disabilities with their mothers and siblings

Singh SJ, Iacono T, Gray KM

Int J Lang Commun Disord, 2015 Mar-Apr;50(2):202-14.

PMID: 25585674 DOI: 10.1111/1460-6984.12128

Depending on the severity of their disabilities, children with Down syndrome (DS) and with cerebral palsy (CP) may remain pre-symbolic for prolonged periods of time. When interacting with pre-symbolic children, communication partners have a role in identifying which of their behaviours are communicative, to be able to respond to those behaviours and maintain reciprocal interaction. To date, most research on these children's communication development has been conducted within the context of mother-child interaction. Seldom have they been observed interacting with other family members, and in interactions other than dyadic, despite these interactions also occurring daily.

Matched MeSH terms: Down Syndrome/diagnosis*; Down Syndrome/psychology*; Down Syndrome/therapy

Care demands on mothers caring for a child with Down syndrome: Malaysian (Sarawak) mothers' perspectives

Chan KG, Lim KA, Ling HK

Int J Nurs Pract, 2015 Oct;21(5):522-31.

PMID: 24674378 DOI: 10.1111/ijn.12275

This paper examines the experiences of mothers caring for a child with Down syndrome in the Malaysian (Sarawak) context. Qualitative interviews were conducted with 26 biological mothers of children with Down syndrome aged 18 years and below. They were accessed through selected child health clinics, community-based rehabilitation centres and schools using purposive sampling within two regions in Sarawak, one of the two Borneo States of Malaysia. Major themes emerging within the context of care demands were children's health, developmental delays, daily needs and behaviour issues. The insights obtained into the care demands experienced by mothers of children with Down syndrome have several implications for practice by care professionals.

Matched MeSH terms: Down Syndrome/ethnology; Down Syndrome/psychology; Down Syndrome/therapy*

Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country

Zahari N, Mat Bah MN, A Razak H, Thong MK

Eur J Pediatr, 2019 Aug;178(8):1267-1274.

PMID: 31222391 DOI: 10.1007/s00431-019-03403-x

Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age.Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery. What is Known: • The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries. • In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome. What is New: • In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate. • In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome.

Matched MeSH terms: Down Syndrome/diagnosis; Down Syndrome/epidemiology*; Down Syndrome/therapy

Fulltext Transient abnormal myelopoiesis with life-threatening complications

Abdul-Wahab, J., Naznin, M, Norlelawati, A.T., Amir Hamzah, A.R.

International Medical Journal Malaysia, 2006;5(2):1-6.

MyJurnal

Transient abnormal myelopoiesis (TAM) occurs in approximately 10% of neonates with Down syndrome. In most cases it resolves spontaneously. Life threatening complications such as cardiopulmonary and liver diseases have been described. We present here two cases which suggest that management of TAM in selected cases will have to be more aggressive.

Matched MeSH terms: Down Syndrome

Fulltext Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia

Azman BZ, Ankathil R, Siti Mariam I, Suhaida MA, Norhashimah M, Tarmizi AB, et al.

Singapore Med J, 2007 Jun;48(6):550-4.

PMID: 17538755

This study was designed to evaluate the karyotype pattern, clinical features and other systemic anomalies of patients with Down syndrome in Malaysia.

Matched MeSH terms: Down Syndrome/genetics*; Down Syndrome/epidemiology; Down Syndrome/pathology*

Fulltext Childhood idiopathic myelofibrosis: a case report and review of literature

Noor-Fadzilah Z, Leong CF, Sabariah MN, Cheong SK

Malays J Pathol, 2009 Dec;31(2):129-32.

PMID: 20514856 MyJurnal

Idiopathic myelofibrosis occurs predominantly in older adults. It is very rarely seen in children. We describe a 3-year-old girl with Down's syndrome who presented with recurrent chest infections associated with anaemia and easy bruising. There was mild hepatosplenomegaly. Full blood picture revealed pancytopaenia with leucoerythroblastosis with absence of circulating blast cells. Repeated attempts at bone marrow aspiration and trephine biopsy were unsuccessful. A trephine biopsy from the tibia showed depressed myelopoiesis and erythropoiesis, megakaryocytes with atypical morphology and increased bone marrow reticulin fibres, findings compatible with idiopathic myelofibrosis. She was treated symptomatically as she was clinically stable. Review of the English literature online yielded 46 reported cases of childhood idiopathic myelofibrosis with variable outcome from spontaneous remission to an indolent course with shortened survival. 6 cases evolved to another malignancy. 5 cases were associated with Down's syndrome.

Matched MeSH terms: Down Syndrome/complications; Down Syndrome/pathology*

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