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"ABSTRAKLatar belakang: Palsi serebral PS adalah gangguan fungsi motorik, postur, dan gerak akibat gangguan perkembangan otak. Insidens PS pada bayi risiko tinggi cukup besar. Alat deteksi dini PS yang mudah dilakukan sangat diperlukan untuk aplikasi klinis sehari-hari.Tujuan: 1 menentukan proporsi PS pada bayi risiko tinggi, 2 mengetahui manfaat dan kesesuaian pemeriksaan refleks primitif usia 4 bulan untuk deteksi dini PS pada bayi risiko tinggi usia 6 bulan dan pemeriksaan refleks perkembangan usia 9 bulan untuk deteksi dini PS pada bayi risiko tinggi usia 12 bulan 3 mengetahui waktu yang dibutuhkan untuk melakukan pemeriksaan refleks primitif dan perkembangan.Metode: Penelitian kohort prospektif dilakukan pada 40 bayi risiko tinggi yang berusia koreksi 4 bulan atau 9 bulan dan pernah dirawat di Unit Perinatologi RSCM. Pemeriksaan 3 refleks primitif dilakukan saat usia 4 bulan. Pemeriksaan keterlambatan motorik, 3 refleks primitif, dan 1 reaksi postural dilakukan saat usia 9 bulan. Diagnosis PS ditegakkan saat usia 6 dan 12 bulan.Hasil: Proporsi PS pada bayi risiko tinggi saat usia 6 dan 12 bulan berturut-turut adalah 26 dan 10 . Nilai kemaknaan dan risiko relatif RR pemeriksaan refleks primitif usia 4 bulan dengan kejadian PS pada usia 6 bulan adalah pemeriksaan refleks palmar p 0,04; RR 6,86; IK95 : 0,94-49,82 , respon tarikan p 0,04; RR 6,86; IK95 0,94-49,82 , dan fisting p 0,04; RR 5,63; IK95 1,38-23,01 . Nilai kemaknaan dan RR pemeriksaan refleks perkembangan usia 9 bulan dengan kejadian PS pada usia 12 bulan adalah pemeriksaan refleks palmar p 0,19; RR 9; IK95 : 0,85-94,9 , fisting p 0,19; RR 9; IK95 : 0,85-94,9 , respon tarikan p 0,28; RR 5,67; IK95 : 0,47-68,02 , keterlambatan motorik p 0,19; RR 9; IK95 : 0,85-94,9 , dan reaksi protektif-ekstensi p 0,37; RR 4; IK95 : 0,31-51,03 . Pemeriksaan refleks primitif usia 4 bulan dan refleks perkembangan usia 9 bulan memerlukan waktu berturut-turut 2 menit 37 detik SB 32,3 detik dan 5 menit 18 detik SB 53 detik .Simpulan: Pemeriksaan refleks primitif usia 4 bulan dapat menjadi alat deteksi dini PS untuk usia 6 bulan dan dapat dilakukan dalam waktu singkat. Pemeriksaan refleks perkembangan usia 9 bulan belum dapat digunakan sebagai alat deteksi dini PS untuk usia 12 bulan.

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ABSTRACTBackground Cerebral palsy CP is motor function and postural disorder due to an insult of the developing brain. The incidence of CP is high among high risk infants. A simple and less time consuming tool for early detection of CP is needed in daily clinical practice.Aim 1 to determine proportion of CP in high risk infants, 2 to determine benefit and congruence of primitive reflexes at age 4 months for early detection of CP at age 6 months, and those of developmental reflexes at age 9 months for early detection of CP at age 12 months 3 to know the time required to perform primitive and developmental reflexes.Method A prospective cohort study was conducted in 40 high risk infants with corrected age 4 or 9 months history of admission to Unit of Cipto Mangunkusumo Hospital. Three primitive reflexes were performed at the age of 4 months. Motor delay evaluation, 3 primitive reflexes, and a postural reaction were performed at the age of 9 months. The diagnosis of CP was established at 6 and 12 months of age.Result The proportion of CP in high risk infants was 26 at 6 months of age and 10 at 12 months of age. The p value and relative risk RR of primitive reflexes at age 4 months associated with incidence of CP at age 6 months were palmar grasp p 0.04 RR 6.86 CI95 0.94 49.82 , traction response p 0.04 RR 6.86 CI95 0.94 49.82 , and fisting p 0.04 RR 5.63 CI95 1.38 23.01 . The p value and relative risk RR of developmental reflexes at age 9 months associated with incidence of CP at age 12 months were palmar grasp p 0.19 RR 9 CI95 0.85 94.9 , fisting p 0.19 RR 9 CI95 0.85 94.9 , traction response p 0.28 RR 5.67 CI95 0.47 68.02 , motor delay p 0.19 RR 9 CI95 0.85 94.9 , and protective extension reaction p 0.37 RR 4 CI95 0.31 51.03 . Primitive reflexes at age 4 months and developmental reflexes at age 9 months required 2 minutes 37 seconds SD 32.2 seconds and 5 minutes 18 seconds SD 53 seconds , respectively.Conclusion Primitive reflexes examination at 4 months can be performed for early detection of PS in high risk infants aged 6 months in short time. Developmental reflexes examination at 9 months cannot be applied for early detection of PS in high risk infants aged 6 months yet."

"Latar belakang Disorders of sex development (DSD) 46,XY adalah kelainan bawaan perkembangan gonad maupun struktur genitalia interna dan eksterna yang berhubungan dengan kromosom 46,XY. Manifestasi klinis DSD yang bervariasi, diagnosis akhir, gender assignment, tata laksana terapi hormon dan pembedahan dapat memberikan dampak pada kualitas hidup dan psikososial. Tujuan Penelitian ini dilakukan untuk mengetahui gambaran spektrum klinis, luaran (diagnosis akhir, gender assignment, pembedahan), kualitas hidup, gangguan psikososial dan faktor-faktor yang memengaruhinya. Metode Studi dilakukan terhadap 122 anak yang berusia kurang dari 18 tahun dengan DSD 46,XY yang berobat ke RSUPN Cipto Mangunkusumo pada 5 tahun terakhir. Pengambilan data sekunder seperti spektrum dan luaran klinis dilakukan mulai Januari hingga Mei 2022. Sebanyak 56 subyek dilakukan wawancara untuk evaluasi kualitas hidup dengan instrumen The Pediatric Quality of Life Inventory (PedsQLTM) dan gangguan psikososial dengan instrumen Strength and Difficulties Questionnaire (SDQ).Hasil Manifestasi klinis terbanyak pada DSD 46,XY adalah hipospadia (97,5%), mikropenis (82,8%), skor EMS < 7 (81,1%), dan skrotum bifidum (75,4%). Sebagian besar individu dengan DSD 46,XY ditetapkan (gender assignment) sebagai lelaki (98,4%), dengan 5,74% subyek yang mengalami perubahan gender assignment dari perempuan. Diagnosis akhir pada DSD 46,XY adalah gangguan maskulinisasi (89,34%), disgenesis gonad (7,38%) dan gangguan sintesis/fungsi androgen (3,28%). Prevalensi gangguan kualitas hidup dan psikososial pada DSD 46,XY rendah. Analisis fungsi domain PedsQLTM dan SDQ menunjukkan 10,71% dan 25,64% subyek mengalami gangguan pada salah satu fungsi kualitas hidup dan/atau salah satu komponen psikososial. Pembedahan pada DSD 46,XY berhubungan dengan fungsi emosi kualitas hidup (p = 0,012) dan psikososial (p = 0,025), sedangkan skor EMS berhubungan dengan fungsi sekolah (p = 0,038).

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Background : Clinical Manifestations, Outcomes, and Quality of Life in Children with 46,XY Disorder of Sex Development (DSD) : Dr. Frida Soesanti, Sp.A(K) DR. Dr. Irfan Wahyudi, Sp.U(K) DR. Dr. Bernie Endyarni Medise, Sp.A(K), MPH Disorders of sex development (DSD) 46,XY is a developmental disorder of gonadal, external, and internal genitalia associated with chromosome 46,XY abnormalities. Varied clinical manifestations, definitive diagnosis, gender assignment, hormone replacement therapy, and surgery may have an impact on the quality of life and psychosocial problems. Objective The study aims to describe clinical manifestations, outcomes (definitive diagnosis, gender assignment, surgery), quality of life, psychosocial problems, and their related factors in children with 46,XY DSD. Methods A study was conducted on 122 subjects below 18 years of age who had been initially diagnosed with 46,XY DSD for the past 5 years (2017-2022) in Cipto Mangunkusumo General Hospital, Jakarta. Secondary data such as clinical manifestations and outcomes were collected from both paper-based and electronic-based medical records from January until May 2022. Fifty-six subjects were able to join telephone interviews assessing their quality of life using The Pediatric Quality of Life Inventory (PedsQLTM) and psychosocial problems using the Strength and Difficulties Questionnaire (SDQ). All data were statistically analyzed with SPSS version 25.0.

Results The most common clinical manifestations in 46,XY DSD were hypospadias (97.5%), micropenis (82.8%), EMS score < 7 (81.1%), and bifid scrotum (75.4%). The majority of the subjects were finally assigned as male (98,4%) with only 5.74% of subjects having gender assignment change from female to male. The definitive diagnosis of DSD 46,XY was undermasculinization disorder (undefined) (89.34%), gonadal dysgenesis (7.38%), and androgen insensitivity syndromes (3.28%). The prevalence of quality of life disorders and psychosocial problems was low. PedsQLTM and SDQ subscale analysis showed that 10.17% and 25.64% of subjects had abnormal scores of quality of life and psychosocial problems, respectively. Surgery was associated with lower emotional function in PedsQLTM (p = 0,012) and its total score (p = 0,023), and emotional component of SDQ (p = 0.025). Scores of EMS were also associated with the school function of PedsQLTM (p = 0.038). Conclusion Surgery is an important factor affecting the emotional function of the quality of life and psychosocial problems; whereas an EMS score < 7 is associated with school function."