Global Developmental Delay

• Seorang anak tidak mencapai tahap

DELAY perkembangan yang diharapkan
sesuai dengan umurnya.

• Keterlambatan perkembangan pada

Global 2 aspek atau lebih (motorik kasar
developmental atau halus, bicara atau bahasa,
delay kognitif, sosial atau personal)
• Umur < 5 tahun (1%-3%)
 Incidence
• World Health Organization
about 5% of the world’s children 14 years of age and
under have some type of moderate to severe disability

• In the United States, developmental

and/or behavioral disorders occur in 16-18% of children
under 18 years of age.
Only 30% are identified before school entrance
Surveillance and Screening

 AAP recommends formal screening at 9, 18,

and 24 or 30 months, and if concerns raised
by parent/physician during routine
surveillance
 AAP also recommends all 18 month olds be
screened with an autism-specific tool
Etiology
 Risk Factors
• Prenatal Maternal Factors
- Acute or Chronic illness (HIV infection)
- Use of drugs or alcohol
- Toxemia
- Previous miscarriage or stillbirth

• Perinatal Factors
- Obstetrical Complication
- Prematurity
- Low Birth Weight
- Multiple gestation
 Risk Factors
• Neonatal Factors
- Neurologic event (seizure or intraventricular
hemorrhage)
- Sepsis or meningitis
- Severe hyperbilirubinemia
- Hypoxia due to respiratory compromise
• Postnatal Factors
- Seizures
- Sepsis or meningitis
- Recurrent otitis media
- Poor feeding
- Poor Growth
- Exposure to lead or other toxin
 Risk Factors
• Factors in the Family history
- Developmental delay
- Blindness
- Deafness
- Chromosomal abnormalities
• Factors in the social history
- History of abuse or neglect
- Limited social or financial support
- Teenage parent
- Single parent
- Mentally retarded parent
- Stressful life events (divorce, death,
unemployment of parent)
Investigation
Treatment
Speech and language therapy
Occupational therapy
Physical therapy and rehabilitation including
mobility and postural support
Family counseling and support
Behavioral intervention
Educational assistance
Sindroma Down
 PENDAHULUAN
1959 Lejeune dll 47 kromosom
……..……..TRISOMI 21…………….
1828-1896 Dr.John Langdon Down
Menggambarkan ciri2 khas, gejala, tanda
sindrom tsb dan karakteristik individual
“idiosi Mongolian atau Mongolisme”
Kemiripan wajah, rambut, mata, kulit,
problm tampilan, temperamen &
kemampuan intelektual
INDONESIA………. 300.000
DUNIA……………… 8.000.000
• ANGKA KEJADIAN……. 1,5 : 1000
• 10% RETARDASI MENTAL
• IBU UMUR LEBIH 35 TH

PENYEBAB SINDROMA DOWN

NON DISJUNGSION
TRANSLOKASI KROMOSOM 21 & 15
POSTZYGOTIC NON DISJUNGSION (MOSAICISM)
INSIDEN SINDROMA DOWN DAN USIA MATERNAL

USIA MATERNAL INSIDEN SIND.DOWN USIA MATERNAL INSIDEN SIND.DOWN

20 1 DALAM 2000 35 1 DALAM 350

21 1 DALAM 1700 36 1 DALAM 300
22 1 DALAM 1500 37 1 DALAM 250
23 1 DALAM 1400 38 1 DALAM 200
24 1 DALAM 1300 39 1 DALAM 150
25 1 DALAM 1200 40 1 DALAM 100
26 1 DALAM 1100 41 1 DALAM 80
27 1 DALAM 1050 42 1 DALAM 70
28 1 DALAM 1000 43 1 DALAM 50
29 1 DALAM 950 44 1 DALAM 40
30 1 DALAM 900 45 1 DALAM 30
31 1 DALAM 800 46 1 DALAM 25
32 1 DALAM 720 47 1 DALAM 20
33 1 DALAM 600 48 1 DALAM 15
34 1 DALAM 450 49 1 DALAM 10
 DETEKSI DINI & GEJALA KLINIS
1. KEPALA, MUKA, LEHER
MUKA MIRIP, LEBAR, TL PIPI TINGGI,
HIDUNG PESEK, DUA MATA LEBIH
JAUH, IRIS BRONSFIELD SPOT, BIBIR
TEBAL,LIDAH TERJULUR, KASAR,
BERCELAH,GIGI LAMBAT TAK
TERATUR, TELINGA LEBIH RENDAH.
KEPALA LEBIH KECIL, LEPER, LEHER
AGAK PENDEK

2. TANGAN & LENGAN

JARI TANGAN PENDEK, KELINGKING BENGKOK KEDALAM, SIMIAN CREASE.
RO FOTO FALANG TENGAH & DISTAL KADANG RUDIMENTER.
3. KAKI & OTOT
A. KAKI AGAK PENDEK, JARAK JARI 1 & 2 AGAK JAUH TERPISAH B. OTOT
LEMAH ANAK KURANG KUAT, GERAK SENDI BERLEBIHAN
 DETEKSI DINI & GEJALA KLINIS
4. ORGAN TERKAIT YANG BERMASALAH :
A. JANTUNG, misal : VSD, ASD, PDA, SIANOSIS
B. USUS, misal : ATRESIA, AGENESIS, MEGAKOLON, dll
5. MASALAH PERKEMBANGAN : MOTORIK KASAR+HALUS, BICARA, SOSIAL
6. MASALAH-MASALAH LAIN : HIPOTIROID, TULANG LEHER TIDAK STABIL,
RISIKO LEKEMIA
 PEMANTAUAN & PENGELOLAAN
TIDAK ADA PENGOBATAN KHUSUS
OPTIMALKAN TUMBUH-KEMBANG
PERLAKUKAN SEPERTI ANAK
NORMAL YANG LAIN

HAL-HAL YANG PERLU DIPERHATIKAN

• BERIKAN SUASANA KONDUSIF DLM MEMBESARKAN ANAK
• MEMBANTU ANAK BERBICARA
• PENTINGNYA PERMAINAN
• NASEHAT KEPADA BAPAK-IBU
 Aspek Psikososial Sindroma Down

Aspek Kognitif
• Mental Retardasi, rata-rata IQ 40
• Mampu latih
• Kemampuan penalaran hitung, memori &
konsentrasi, perbendaharaan & kelancaran
kata rendah
• Pengertian umum, penalaran perlu dilatih
 Aspek Psikososial Sindroma Down

Ketrampilan Sosial & Stabilitas & Ekspresi Emosi

Kemandirian
• Instinktif
• Bina diri & interaksi • Imitatif, identifikasi
• Ketrampilan hidup • Latihan
sehari-hari
• Komunikasi reseptif,
ekspresif dan tertulis
 Aspek Psikososial Sindroma Down

Pendidikan Perencanaan masa depan

• Menyangkut seluruh • Orang tua, guru,

aspek kehidupan masyarakat
• Pengenalan lingkungan • Libatkan anak
• Proses panjang
• “gentle teaching”
Cerebral Palsy
 Definition
• Group of disorders that
 present after birth
 characterized by abnormal control of movement or posture
 absence of recognized underlying progressive disease

Not a single disease, but group of conditions

 different parts of body involved
 other associated disabilities.

23
 Epidemiology
• Prevalence 2/1000 live birth
• The incidence of CP is difficult to estimate

24
Classification of Cerebral Palsy and Major Causes
Motor Syndrome Neuropathology Major Causes

Spastic Diplegia Periventricular leukomalacia Prematurity

(PVL) Infection
Endocrine/metabolic (e.g.
thyroid)
Spastic Quadriplegia PVL Ischemia
Multicystic encephalomalacia Infection
Malformations Endocrine/metabolic
Genetic/developmental
Hemiplegia Stroke: in utero or neonatal Thrombophilic disorders
Infection
Genetic/developmental
Periventricular hemorrhagic
infarction
Extrapyramidal (athetoid, Basal ganglia Asphyxia
dyskinetic) Pathology: putamen, globus Kernicterus
pallidus, thalamus Mitochondrial
Genetic/metabolic 25
Haslam, Nelson Textbook of Pediatrics, 2004
Forms of Spastic Cerebral Palsy

• Spastic Hemiplegia
• Spastic Paraplegia
• Spastic Diplegia
• Spastic Quadriplegia

26
 Etiology
Risk factors and aetiology of CP
Prenatal Perinatal Postnatal

Congenital infection: Prematurity Cerebral trauma

Herpes virus Complicated delivery Infection
Toxoplasmosis CNS-infection and/or Intracranial
Rubella sepsis haemorrhage
Cytomegalovirus Intracranial Acquired
Syphilis haemorrhage encephalopathy
Brain malformation Hypoxia-ischaemic Neonatal seizures
Teratogenic substances encephalopathy
Traumatic delivery
Prenatal obstetric
complications
Toxinemia, placenta
previa, malnutrition,
chromosomal
abnormalities, Family
history of CP 27
 Perinatal Risk factors

An 15 month old boy with perinatal asphyxia. Brain MRI

reveals lateral and third ventricle dilatation, cortical and
subcortical atrophy, calcifications and basal gaglia
 Pathophysiology of
Hypoxic-Ischemic Brain Injury
• Intrapartum Asphyxia results in:
– diminished oxygen content in blood
– increased carbon dioxide
– acidosis
– decrease blood pressure
• Loss of normal cerebrovascular autoregulation resulting in
pressure-passive flow
• Results in decreased perfusion of brain
• Reperfusion injury and IVH

29
30
 Clinical characteristic
• Clinical characteristic: mixed hypertonia of the
pyramidal type with:
• Increased deep tendon reflexes, clonus,
positive Babinski sign and the tendency for
permanent deformities
• Depending on the topographical distribution
monoplegia, hemiplegia or tetraplegia

31
CP: Spastik Quadriplegi

Fisting

“Scissoring”
of lower limbs

32
CP: Spastic Diplegia

Contractures
of hips, knees,
and feet
(talipes
equinovarus)

33
34
 CP: Spastic Diplegia

• Incidence : 0.9/1,000 live births (10-30% total

incidence)
• The cause: always congenital, prematurity

35
 CP: Spastic Hemiplegia

Hemiplegia on the
right side.

Contractures of
hip, knee and foot

36
CP: Athetoid

Persistent
asymmetric
tonic
neck reflex

37
 Diagnosis

• 50-70% are already been established by the

end of the neonatal period

• Clinical examination

38
 Diagnosis (cont’)
Early signs of CP
Muscle tone alterations: hypotonia, scissoring,
fisting, opisthotonic posturing, passive
resistance to stretch, dystonia
Persistence of primitive reflexes: Moro,
asymmetric tonic neck reflex, crossed extensor
reflex, persisting support reflex, placement
reflex

39
 Diagnosis (cont’)
Asymmetric neurologic signs: tone, parachute
reflex, handedness before 12 months,
asymmetric placing reaction, asymmetry of
upper-lower limbs
Deep tendon reflexes: sustained clonus,
persistent crossed abductor reflex

40
 Investigation
• Laboratory tests: congenital infection,
hypothyroidism, metabolic disease
• CT or MRI of the brain
• EEG
• Karyotype
• EEG
• Evoked potentials
• BERA
• EMG
• Muscle biopsy

41
 Associated problems
• Visual disturbances
• Hearing problems
• Sensory deficit
• Speech disturbances
• Learning disabilities
• Mental retardation
• Epilepsy
• Psychologic-Psychiatric problems

42
 Associated problems
Complications associated with CP
Cognitive: mental retardation, learning disabilities,
attention deficit disorder
Ocular: Strabismus, refractive errors, visual field deficit,
nystagmus, myopia
Communicative: hearing loss, dysarthria, aphasia
Epilepsy: Generalized, focal, astatic-myoclonic
Orthopedic: joint contractures, subluxation, dislocation,
scoliosis

43
 Learning disabilities
• Result from visual, hearing and speech disturbances
• Various types and degrees of learning disturbances
• Mental retardation
• Poor attention span
• Inadequate education that children with motor
disturbances often receive
• Specific learning disabilities such as dyslexia, dysgraphia
and dyscalculia

44
 Management
• Early intervention therapy
• Developmental therapy
• Orthopedic management
• Neurosurgical procedure
• Occupational therapy
• Speech therapy
• General therapeutic measure
• Medical therapy

45
 Prognosis
• In all of CP: depends on the level of the motor
progress
• If they acquires the sitting ability during the
first 2 years prognosis is good
• If they are unable to sit by 4-5 years is
very unlikely to be able to walk

46
47