Page 146 - Abstract Book KONIKA 18

Developmental Behavioral & Community Pediatrics

P-DBCP-029
Spinal Muscular Atrophy in Two Consecutive Sibling: A Case Report

Laily Mufidah, Mei Neni Sitaresmi, Retno Sutomo
Department of Child Health, Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada/
Dr. Sardjito Hospital, Yogyakarta, Central Java, Indonesia
Abstract
Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous
deletion of the survival motor neuron-1 (SMN1) gene, leading to progressive muscle weakness. A child
born to parents, who are both carriers, has a 25% probability of getting the disorder. Objective To present
SMA cases in two consecutive siblings. Case The first patient was a 5-year-old girl. She started having
muscle weakness at 1.5 years old. She can sit independently but be unable to walk. The second patient was
a 2-year-old girl, the younger sister of the first patient. She began getting muscle weakness at three months
old. She cannot sit independently. She was hospitalized for pneumonia at six months old. Creatine kinase
levels of them were 355 U/L and 299 U/L respectively. Electroneuromyography showed axonal neuropathy
of all extremities in both patients. They were confirmed for having SMA by molecular genetic analysis
showing homozygous SMN1 deletion. Based on the clinical onset and severity, they classified SMA type 2
and 1, respectively. The parents were quite shocked because they had been informed in genetic counseling
that the risk for having an affected child was 25%, who they perceived as relatively low. Conclusion The
occurrence of SMA in consecutive siblings makes genetic counseling more challenging in a real clinical
setting about making parents understand how such disorder affecting both of their children. As pediatrician,
we should emphasize that the expected 25% risk for inheriting any autosomal recessive disorder applies to
each pregnancy, regardless of the number of children.
Keywords: spinal muscular atrophy; sibling; genetic counseling

P-DBCP-030
A Comprehensive Management of An Intellectual Disabled Girl
as A Victim of Sexual Abuse

Eva Devita Harmoniati
Harapan Kita Women and Children Hospital Growth, Development and Social Pediatric Working Group,
Jakarta, Indonesia
Abstract
Background Children with developmental disorder face increased risk of being a victim of sexual abuse.
A comprehensive management involving multiple stake holders is necessary to protect these children from
this violence. Objective To learn about a comprehensive management involving multidiscipline health care
and social worker. Case A 10 years old girl was brought to the Social Pediatric Clinic in Harapan Kita
Women and Children Hospital, accompanied by her mother and 2 social workers. The mother explained
that her daughter was molested and pregnant. She was an intellectual disabled girl (IQ of 40) and often
hitting her stomach. The mother reported the case to P2TP2A in her county and was advocated to make a
report to the police. We examined the girl together with an Obstetric Gynecologists that showed the fetus
was 10 weeks old with a normal heart beats. An HIV screening was also performed and resulted negative.
Discussion with the ethic committee in the hospital concluded that abortion is not possible. She was sent
to a government safe house and given birth in a local hospital. The baby was offered for adoption, and due
to her home environment and inability of her mother to take care of her, the girl was kept in the safe house
to prevent repeated violence. The perpetrator remained free because he was considered mentally disabled.
Conclusion A comprehensive management in a case of child sexual abuse is important for the best interest
of the child.
Keywords: sexual abuse; comprehensive management

98 KONIKA XVIII Abstract Book