Page 91 - Abstract Book KONIKA 18

Neurology

O-NEU-003
Cognitive Problems in Duchenne Muscular Dystrophy
in Relation to Underlying Dystrophin Gene Mutations

Kristy Iskandar, Braghmandita W. Indraswari, Retno Sutomo, Ignatia R. Kirana,
Agung Triono, Elisabeth S. Herini, Sunartini
Department of Child Health, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada/
Dr. Sardjito Hospital, Special Region of Yogyakarta, Central Java, Indonesia
Abstract
Background Dystrophin isoforms are expressed in different area of brain. Duchenne muscular dystrophy
(DMD) is associated with neurobehavior disorders. Objective To characterize the DMD cognitive profile
and to explore underlying genotype-phenotype associations. Methods Thirty-eight boys with DMD (mean
11y, range 5-16y) in Dr. Sardjito Hospital & UGM Academic Hospital were included and underwent IQ
assessment. Genetic mutation in the dystrophin gene was confirmed by multiplex-ligation-dependent probe
amplification or sequencing. Patients were allocated into three groups according to the location of the
mutations, i.e., 5’ end (upstream exon 30), central rod (exon 31-62), and 3’ end (downstream exon 63), that
affect Dp 427; Dp 260,140,116; and Dp71 dystrophin isoforms respectively. Results The mean total IQ score
of DMD patients was lower than that of general population (81±20.1 vs. 100±15), with intellectual disability
observed in 11 boys (30.5%). Boys with mutations at 3’ end had lower total IQ, verbal dan performance
score. The mean total IQ score in the 5’ end, central rod, and 3’end mutations groups were 100.4 (SD 16.3),
86.8 (SD 20.2), 51 (SD 22.6), respectively (P=0.018). The overall adaptive behavior composite (ABC) score
was low (45.4±17.8) compared to the normal score of 100 in general population. Interestingly, although
communication performance differed significantly between mutations groups, daily living, socialization skill
and ABC score did not. Conclusions Children with DMD are at high risk of cognitive problem, that might
be still underrecognized in daily practice. The risk appears to increase with mutations at the 3’ end of the
gene. This phenomenon needs prompt evaluation and early intervention.
Keywords: DMD; IQ; cognitive; dystrophin

O-NEU-004
Assessment of Growth Status in Children with Cerebral Palsy
with the Reguler Curve Compared with the Special Curve

Lowelly Napitupulu, Johannes Saing, Rosmayanti Siregar
Department of Child Health, Faculty of Medicine Universitas Sumatera Utara/Haji Adam Malik General Hospital,
Medan, North Sumatera, Indonesia
Abstract
Background The growth curve used so far mostly uses the reguler curve with the results being very poor for
children with cerebral palsy. Objective To determine the difference in anthropometric assessment of children
with cerebral palsy based on anthropometric calculations of the regular and the special curve Methods
Analysis with cross sectional approach in age <18 years treated in Haji Adam Malik General Hospital, Medan,
from December 2020 – February 2021. Assessment of parameters of BW/A, BH/A (based on estimated tibia
length, knee-heel, and upper arm) and BMI/A between the regular and special curve. Mann Whitney analysis
was used to evaluate the abnormal distribution. The level of significance and the confidence interval were
P < 0.05 and 95% (95%CI). Results A total of 51 subjects were analyzed the difference between the regular
and the Brooks Curve. The mean rank of BW/A in the regular curve is 29.71 rather than on Brooks curve
is 73.29. The mean rank of BH/A based on estimated tibia length is 28.71 rather than 74.29. To estimated
knee-heel is 28.89 rather than 74.11. To estimated upper arm is 29.38 rather than 73.62. The mean rank of
BMI/A in the regular curve is 44.63, rather than on Brooks curve is 58.37 (P=0.01) Conclusion There is a
difference between the parameters of BW/A, BH/A (based on estimated tibia length, knee-heel, and upper
arm) and BMI/A between the regular and special curve.
Keywords: cerebral palsy; growth status; curve of cerebral palsy

KONIKA XVIII Abstract Book 45