Tumbuh Kembang

LABORATIUM & TUMBUH KEMBANG
Growth & Development
Kuliah Ilmu Patologi Klinik Fakultas Kedokteran UKRIDA

Blok 13 Desember 2012
Sanarko Lukman Halim
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Dominant and Recessive Genes

Genotypeunderlying genetic makeup Phenotypetraits that are expressed Dominant geneswill always be expressed if present Codominant Recessive geneswill not be expressed unless they are in a pair
What is Epigenetics?
Heritable changes in phenotype or gene expression caused by mechanisms other than changes in DNA sequence. Epigenetics causes the organism's genes to behave differently, such as the changes seen when cells differentiate or become malignant.
Sex Linked Traits

Traits linked to the X or Y (sex) chromosomes (46,X,Y) Usually recessive and carried on the X chromosome Appear more frequently in one sex than another Color blindness, baldness, hemophilia, Fragile X
Physical and Psychological Development Related

Physical development begins at conception Physical maturity sets limits on psychological ability
visual system not fully functional at birth language system not functional until much later
Prenatal environment can have lifetime

influence on health and intellectual ability
Tumbuh Growth KembangDevelopment Tumbuh:Ingin Tumbuh Sempurna Pra-nikah Janin (infeksi, herediter, Kongental) Kelahiran Neonatus/Bayi (Neonatal Screening) Anak Dewasa (Anemia, Hiperlipidemia, Diabetes,kelainan organ) Tua (Keganasan, degeneratif)
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Penyebab2
Tobacco High blood pressure 12 11
Alcohol
High cholesterol High BMI
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8 8
Conclusions
Few major risk factors - several multi-factorial disorders Treatment important but prevention under-used and under-valued
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Preconception Obstetrics CHC Health QoL Wellbeing etc.
Ideal ageing
Prevention & cure Well-being perspective Participation
Intervention
Age
Birth Chronic disorder 1 Complication 8 Chronic disorder 2
Elderly perspective Newcastle 85+ cohort

High prevalence and complexity age related disorders (many undiagnosed)
Hypertension 58% Osteoarthritis 52% Atherosclerosis 47% Cataract 47% At least 3 of above 90% Hearing loss, visual imp., falls, ui
66, 33, 40, 20%
High health care use 94% GP previous y Self rated health good or better 78%
Yet clearly frail, and considerable unmet needs!

Collerton et al. BMJ 2009
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Healthy perspective?
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Barker-Hypothesis
Hertfordshire study (early 1990s) Link between low birth weight Glucose intolerance at adult age Cardiovascular disease at adult age Molecular mechanism?
AGEING STARTS IN UTERO

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Perkembangan
Faktor faktor yang mempengaruhi:
Genetik Talasemia, def G6PD, Sindroma Down Kelainan kongenital Hipotiroidi Kongenital Lingkungan kebersihan, suasana rumah Gizi nilai protein, malnutrition, albumin Penyakit Infeksi mikroba, kultur, IgG, IgM, ELISA Sosio-ekonomi keuangan, pendidikan
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Keinginan:Tumbuh Sempurna
Fisik otot, tulang, growth curve pertumbuhan Intelektual pendidikan Kejiwaan emosional stabil
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Persiapan pra-nikah
Penentuan Golongan Darah ABO Penentuan faktor Rhesus Rh inkomp Hemolytic Disease of the Newborn (HDN) Darah Lengkap Deteksi adanya penyakit: Sifilis Hepatitis B, C HIV Bila ada indikasi: Talasemia ,
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Janin
Pemeriksaan wanita hamil
Darah Lengkap Anemia Golongan Darah, faktor rhesus HDN Kadar glukosa puasa, 2 jam pp
gestational diabetes Infeksi kelainan kongenital pada janin
Analisis cairan amnion, bila terindikasi

Sindroma Down, Kordosentesis, bila ibu hamil & suami trait talesemia sama
Toksoplasma Sifilis HIV
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Neonatus
Darah Rutin Glukosa darah Neonatal Screening (NS)
Hipotiroidi Kongenital (HK) IQ rendah. kretin Phenylketonuria (PKU) IQ rendah def G6PD anemia hemolitik Congenital Adrenal Hyperplasia (CAH)
kesulitan penentuan seks bayi, salt losing Monitoring bilirubin indirek HDN
Bila ibu sifilis, tes sifilis kongenital Bila ibu HIV positif, cek apakah bayi terinfeksi Bila ibu toksoplasmosis, cek apakah bayi terinfeksi
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Anak
Perhatikan perkembangan dan nutrisi Cek Hemoglobin Cek ada tidaknya malnutrisi protein Tes Albumin Darah Imunisasi Tes HBsAg. Negatif imunisasi
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Kuliah Neonatal Screening NS
Hipotiroidi Kongenital HK Phenylketonuria PKU

Congenital Adrenal Hyperplasia CAH
G-6-PD defisien
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The genetic disorder is serious The test is accurate There is available therapy The cost is proportional to the benefit No unreasonable burden was to fall on those falsely identified as ill or on those individuals who were screened but were found not to be affected
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Basic Ethical Principles of Neonatal Screening
Galaktosemi
Glucose + galactose Glucose + fructose
lactose + H2O sucrose + H2
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Important Disaccharides
A disaccharide Consists of two monosaccharides. Monosaccharides Disaccharide Glucose + glucose maltose + H2O Glucose + galactose lactose + H2O Glucose + fructose sucrose + H2O
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Uji Tapis Hipotiroidi

1. 2. 3. 4. 5. Aim of Screening Causes of primary hypothyroidism Screening Parameter: TSH Timing; cut off atypical hypothyroidism with delayed elevation of TSH 6. Conclusions and recommendations
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Tujuan Uji Saring Kelenjar Tiroid

early diagnosis of primary hypothyroidism
[Frequency 1 in 3500] [to optimize mental development]
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Penyebab hipotiroidi primer 15% hereditary 1. inborn errors of thyroxine synthesis. 2. mutations in the genes coding for the
sodium/iodide symporter, thyroid peroxidase and thyroglobulin
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Penyebab Acquired pr.. hypothyroidism
Iodine deficiency Iodine excess antiseptica, or other iodine contained agents
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Parameter Uji Saring CHT: TSH

in the screening
for primary hypothyroidism
an elevated TSH is much more sensitive than a low T4 level
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Timing for screening blood sample
independent of gestational age day 3 p.p.(>48h) in all newborns
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Sampling &Metodologi
Capillary spotted blood on filter paper Cave:high hematocrit >falsely low values Fluorometric assay
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Fungsi tiroid janin & neonatus
Thyroxine (T4)
levels are higher in full term than in premature newborns.
TSH
dose not change during the second half of gestation
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TSH cut off

Cord blood 40 U TSH/ml Day 3-6 20 Day >7 10 Valid for all newborns independently from gestational age
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Kesimpulan
(Perhatikan khusus (Rapaport 2003):
1. VLBW infants 2. infants requiring intensive neonatal care 3. infants exposed to iodine-containing solution, especially in low iodine endemic regions 4. dopamine, amiodarone, or other agents that affect thyroid functions, and 5. infants with congenital anomalies, especially cardiac defects and chromosomal abnormalities.
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Figure 15-11. (Left panel) Infant with severe, untreated congenital hypothyroidism diagnosed prior to the advent of newborn screening. (Right panel) Infant with congenital hypothyroidism identified through newborn screening. Note the striking difference in the severity of the clinical features.
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Figure 15-12. Ten year old female with severe 1 hypothyroidism due to primary myxedema before (A) and after (B) treatment. Presenting complaint was poor growth. Note the dull facies, relative obesity and immature body proportions prior to treatment. At age 10 years she had not lost a single deciduous tooth. After treatment was initiated (indicated by the arrow in Panel C), she lost 6 teeth in 10 months and had striking catch up growth. Bone age was 5 years at a chronologic age of 10 years. TSH receptor blocking antibodies were negative. 34
Uji Tapis/Skrinig Phenylketonuria/ PKU

All published studies show that PKU screening and treatment represent a net direct cost savings to society
Phenylketonuria: Screening and

Management NIH Consensus Statement Online 2000
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Overview
What is PKU? Diagnosis of PKU Discovery of PKU PKU Diet Women (pregnant) with PKU Quiz/Questions
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Apakah Phenylketonuria?
Inherited metabolic disease Autosomal recessive disease Phenylalanine is not metabolized to tyrosine due to deficiency or inactivity of phenylalanine hydroxylase (PAH). PKU is caused by a mutation in a gene on chromosome 12. There are three different ways PAH enzyme can affect the conversion of phe to tyr.
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Phenylketonuria
Most common inborn error in amino acid metabolism High phe can cause neurologic damage Unusual compounds: phenylpyruvate; phenyllactate; phenylacetate
Brain toxicity: reduced uptake of other aromatic amino acids Tyrosine deficiency may lead to hypopigmentation Cofactor processing can also be defective
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Living with PKU
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Cara Diagnosis PKU

Tested for at birth in all 50 states (AMERICA) Guthrie bacterial inhibition assay is most common test done. If positive test, have to retest to determine if it is defect in BH4 (cofactor to PAH) or PKU. If blood concentration of phe exceeds 6 mg/dl and tyr levels are less than 3 mg/dl test is positive for PKU. There are different levels of severity for PKU: mild PKU= >6 mg/dl and PKU= >20 mg/dl.
40 http://www.pkunews.org/
Pentingnya Diagnosis Dini PKU

individuals without early diagnosis develop complications such as severe mental retardation/low IQ, heart defects Early diagnosis is important to prevent these complications as soon as possible. If PKU is caught and treated early, children are healthy and grow up with normal IQ levels.
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To decrease phenylalanine levels Between 2-6 mg/dl are considered safe levels. To increase tyrosine Because the bodys PAH gene does not work properly, tyrosine synthesis is compromised
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Tujuan diet PKU
Transisi ke makanan padat

Childs rate of growth and development must be closely monitored Effective management requires cohesive team child, parents, social worker, registered dietitian, pediatrician, psychologist, and nurse work together Goal is to maintain biochemical control, and provide an atmosphere for normal mental and emotional development
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Diet PKU seumur hidup

Current Recommendations Effective management of blood phenylalanine concentrations should be done throughout life Some studies have found a correlation between prolonged and significant elevation of blood phe levels, and declining intellectual capabilities in adults. Regular testing should be done to make sure the PKU diet is effective in disease maintenance. If phenylalanine and tyrosine levels are unsafe, appropriate adjustments in diet should be made.
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High Maternal blood phenylalanine levels are extremely toxic to the developing embryo/fetus: Severe mental retardation Small head size (microcephaly) Heart defects Low birth weight Characteristic facial features/defects These complications are a result of high blood phe levels in mother the baby is affected even if he/she does not inherit PKU.
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Ibu Hamil dengan PKU 1/2
Ibu Hamil dengan PKU 2/2

Special diet is essential to help prevent birth defects Special PKU diet and regular screening for phenylalanine levels should begin at least three months prior to becoming pregnant. Continuing the diet and regular screening during pregnancy can decrease chance of complications Blood tests need to be done at least once a week. Even a mother who follows the special diet may still have a baby with birth defects
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G6PD Deficiency
G6PD Deficiency is also called Glucose-6phosphate Dehydrogenate. It is a common enzyme deficiency. There are about 400 million people do have G6PD Deficiency. In Africa, theres one G6PD Deficient person per four people.
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Percent of people who have G6PD Deficiency
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G6PD Deficiency
G6PD enzyme is located on sex ` enzyme is X-linked gene. Males are more likely to have defective gene than females do because G6PD deficiency will only manifest itself in females when there are two defective copies of the gene in the genome. As long as there is one good copy of the G6PD gene in a female, a normal enzyme will be produced and this normal enzyme can then take over the function that the defective enzyme lacks.
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Anemia Hemolitik
G6PD deficiency cause red blood cells no longer transport oxygen effectively throughout the body. This condition is called Hemolytic Anemia Arises. There are other conditions that also caused by G6PD deficiency- neonatal jaundice, abdominal back pain, dizziness, headache, irregular breathing, and palpitations.
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Congenital adrenal hyperplasia (CAH)

The commonest cause of genital ambiguity at birth 21-Ohas deficiency is most common form Autosomal reccessive
Salt wasting form may be lethal in neonates
SERUM 17OHprogesterone (21OHase)
SERUM deoxycorticosterone, 11deoxycotisol (11- OHase) Treatment : cortisol
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21-hydroxylase deficiency congenital adrenal hyperplasia

Cholesterol Pregnenolone Progesterone 17-OH progesterone
Pituitary
ACTH
Adrenal cortex
21-hydroxylase
Cortisol
Androgens
Cortisol
Androgens
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Congenital Adrenal Hyperplasia/CAH

Cause Most common form of CAH is complete
absence of 21 hydroxylase activity
Severe renal sodium wasting due to deficient aldosterone production and inhibition of sodium absorption in the distal nephron Symptoms Ambiguous genitalia, hyponatremia, hyperkalemia, and metabolic acidosis
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Heel-prick neonatus
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Dewasa Pria, Wanita

Diabetes? Tes Glukosa puasa dan 2 jam pp Hiperlipidemia ? Tes kadar kolesterol
Keganasan
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Elderly Development
Generally over 60 years Feel integrity vs. despair accomplishment or failure Weakened immune system leaves them susceptible to dangerous diseases Due to a lifetime of having antibodies the elderly rarely get the common cold Mental disintegration may occur leading to Alzheimer's Dementia
Lansia
Dibicarakan terpisah
Keganasan Penyakit degeneratif
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Buku Wajib: McPherson RA., Pincus MR., Editors Henrys Clinical Diagnosis and Management by Laboratory Methods 21st edition, ISBN-13:978-1-4260-0287-1 Saunders Elsevier 2007 Daftar Kepustakaan Gaw A, Clinical Biochemistry, ISBN 0-443-04481-3 Churchill Living Stone New York 1995, 92-93 Churchill Living Stone New York ISBN 0-443-04481-3. 1995 Abraham P. editor, Physiology, ISBN-13: 978-1-905704-64-4, Amber Books London 2007 6 Thompson MW et al., Thompson & Thompson: Genetics in Medicine. Fifth Edition. ISBN 07216-2817- WB Saunders Philadelphia, USA 1991 McPherson RA., Pincus MR., Editors Henrys Clinical Diagnosis and Management by Laboratory Methods 21st edition, ISBN-13:978-1-4260-0287-1 Saunders Elsevier 2007 Daftar Kepustakaan Gaw A, Clinical Biochemistry, ISBN 0-443-04481-3 Churchill Living Stone New York 1995, 92-93 Churchill Living Stone New York ISBN 0-443-04481-3. 1995 Abraham P. editor, Physiology, ISBN-13: 978-1-905704-64-4, Amber Books London 2007 6 Thompson MW et al., Thompson & Thompson: Genetics in Medicine. Fifth Edition. ISBN 07216-2817- WB Saunders Philadelphia, USA 1991 Federman DD., The Biology pf Human Sex Differences. N Engl J Med 2006; 354:1507-14
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What is Epigenetics?
Heritable changes in phenotype or gene expression caused by mechanisms other than changes in DNA sequence. Epigenetics causes the organism's genes to behave differently, such as the changes seen when cells differentiate or become malignant.
Breast Cancer
Pathology Grade of tumor Protein & gene expression Stage of a tumor Squamous Cell Carcinoma Ductal Carcinoma
Epigenetic Biology of Normal Cells

The methylation of cytosines in DNA is the most widely studied epigenetic modification with 36% of all cytosines methylated in normal human DNA. The methylation of DNA is located in regions known as CpG islands.
Repetitive genomic sequences are highly methylated to protect chromosomal integrity by preventing the reactivation of transposable elements such as LINES, SINES, HERVS.
The healthy cell regulates genes and tissue-specific genes in the germ line through DNA methylation, such as genomic imprinting and X-chromosome inactivation.
Epigenetic Biology of Normal Cells
Lysine methylation at H3K9, H3K27, and H4K20 gene silencing Lysine methylation at H3K4, H3K36, and H3K79 gene activation.
Functional Interactions between DNA and Histones
Conception to Full Term

First Trimester
Begins with conception, when 1 sperm penetrates the ovum (egg) in the outer third of the fallopian tube. The zygote (fertilized ovum) travels through the fallopian tube toward the uterus, dividing along the way. At the back of the group of cells, or morula, is a rootlike projection that will eventually become the placenta.
Chapter 7
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Conception to Full Term (cont.)
Chapter 7
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By 21 to 25 days from conception, a rudimentary heart is beating and a nervous system is forming. At 4 weeks, the embryo is about inch long and has arm buds, a head, body, and tail. Eyes can be discerned. At 5 weeks, the nose can be seen.
Chapter 7 66

At 6 weeks, the embryo is a little less than inch long and leg buds can be seen.
Chapter 7
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At 7 weeks, the embryo is about inch long and can move its hands. At 8 weeks the embryo is almost 1 inch long, has a large liver, and bones are forming. At 10 weeks, the fetus is about 1 to 2 inches long, the kidneys are making urine, and lower trunk muscles are developing. Chapter 7
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Second Trimester
At 12 weeks, the head of the fetus is about one-third the size of its outstretched length and the ribs can be seen. Soft, downy hair begins to appear.
Chapter 7
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At 16 weeks, the fetus is about 4 inches long and weighs 3 to 4 ounces. At 20 to 24 weeks, the fetus is about 12 inches long, major systems continue to develop, and bones continue to form.
Chapter 7 70

Third Trimester
At 26 weeks, the pregnancy begins the third trimester. At 28 weeks, the fetus is about 14 inches long and weighs about 2 pounds. Survival is possible if born at this stage. 38 to 40 weeks labor begins.
Chapter 7 71
The Neonate: Birth to One Month

Physical Development weight usually 7 to 9 pounds, and length 18 to 22 inches.
The newborns head is large in comparison with rest of body.

Chapter 7 72
The Neonate: Birth to One Month (cont.)

Bones in skull are not fixed, but can slide over one another. This is called molding. Head has 2 soft spots, or fontanels, which are tough cartilage. Chapter 7
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The Skin of the Newborn
Loose, wrinkled, and red. At birth, hands and feet may be bluish, but will pinken after a few breaths. Activity, temperature, and circulatory changes during the first few days can affect skin color. Peeling during the first week is not unusual or harmful. Vernix caseosa, a white waxy substance, may Chapter 74 be found in the folds of7 the skin.
Milia, small white bumps on the chin and nose may appear, but go away naturally. The remaining part of the umbilical cord is about 1 to 1 inches long and usually falls off after the 10th day of life. Neonatal jaundice, a yellowish color of the skin caused by an accumulation of bilirubin, can occur.
Chapter 7
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Other Physical Characteristics of the Newborn:
Eyes may appear swollen, due to the passage through the birth canal. Lips may have blisters from thumb sucking in the uterus. Breast tissue and genitalia may appear swollen. Chapter 7 Fists tightly closed.
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Reflexes blinking, a normal reflex. Some other reflexes are due to an immature nervous system. Crying may be from hunger or other reasons. Eating 7 or 8 times a day for the first few weeks. Sight infants can see objects within Chapter 7 8 inches of their eyes.
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Intellectual-Cognitive Development
Newborns will become calm when picked up and held firmly. Disturbing stimulation is tuned out by sleeping.
Infants respond to a soft, gentle voice. Newborns can show excitement and distress.
Chapter 7 78
Social Development


Aspects of Care:

Keep warm, especially right after birth. Vitamin K shot given to prevent bleeding. Medicated eye drops to prevent infection. Umbilical cord is painted with antibacterial. Chapter 7 79 Give small amounts of water to ensure
Feeding by breast, bottle, or both. Parents must be told about the frequency and duration of the feedings.
Chapter 7
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Treatment of jaundice make sure the infant is well hydrated with breast or bottle milk. Ultraviolet light may be used, but make sure to protect the infants eyes. Blood tests should be done frequently. Arrange follow-up 7care. Chapter
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The Infant: One Month to One Year

Physical Development

Weight triples in the first year. 3 weeks the infant can focus on objects. 4 weeks the infant can follow a bright object with eyes and make eye contact. 2 months an infant can follow objects with eyes, 7listen to Chapter sounds, bat at objects, and
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The Infant: One Month to One Year (cont.)

Physical Development (cont.)
3 months infants may raise head and shoulders while on abdomen. 4 months infant can roll from stomach to back, may play with rattle placed in the hand. Teething may begin. 5 months may transfer rattle hand to hand. 6 months may roll back to stomach, 83 may be able toChapter momentarily, can sit 7
(cont.)
9 months infant can sit well, creep, build tower with 2 blocks. Infant uses pincer grasp, can put consonants with vowels and make repetitive sounds. 12 months child can cruise by holding onto Chapter 7 the edge of a piece of
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1 month eye contact. 4 to 5 months makes faces. 6 months makes babbling sounds. 9 months can play peek-a-boo games. 12 months can follow simple directions.
Chapter 7 85

Psycho-Emotional Development
1 month smiles at another smiling face. 3 months smiles spontaneously and displays pleasure in making sounds. 4 months vocalizes moods. 6 months abrupt mood changes. Chapter 7 9 months displays pleasure
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Social Development

1 month smiles. 3 months responds to voices. 6 months babbles and is interested in own voice. 9 months begins to develop words.
Chapter 7 87

Aspects of Care: One Month to One Year
Regular health check-ups and immunizations. Tactile stimulation, such as physical contact and cuddling, as well as attention to needs, is required for appropriate growth and development. Chapter Food breast milk7 or formula is
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Safety must be considered at all times. Take the following safety measures:
Keep emergency phone numbers available.
Ensure the crib meets federal safety standards.

Use an appropriate car seat. Chapter 7
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Safety (cont.)

Prevent falls. Prevent choking. Remove hanging toys from the crib when the child begins to reach, pull, and roll over. Never leave the child unattended in the car. Chapter 7 Secure and keep out of reach all cords
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The Toddler: One to Three Years

Arms and legs grow faster than the trunk. Most walk by 15 months, run by 2 years. At 3 years, they are very agile and active. They can throw a ball, draw simple Chapter 7 shapes, and use childs
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The Toddler: One to Three Years (cont.)

Child tries to imitate actions like raking, sweeping, etc. Speech
12 to 15 months speaks single words. Second year makes sentences of 6 to 20 words. Chapter 7 Third year repeats nursery rhymes.
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1 year many emotions available. 1 to 3 years child gains some control over ways to express feelings. 18 months to 2 years temper tantrums become an issue, child begins to resist authority. 3 years child becomes sensitive to Chapter 7 the feelings of others and may be
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Social Development
1 to 2 years child unable to play well with others, may be aggressive. 2 to 3 years child learns sharing and becomes aware of appropriate behavior when playing with others.
Chapter 7 94

Aspects of Care

Work on motor skills with crayons. Patient explanations and patience provide a positive environment for growth. Health care monitoring and vaccinations are needed. Toilet training may be encouraged Chapter 7 when child demonstrates signs of
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The Preschooler: Three to Five Years of Age

Height heredity becomes apparent in variations among children. Respiratory and heart rates begin to slow. Bones begin to ossify. Activity and calcium are important in Chapter developing strong 7bones.
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The Preschooler: Three to Five Years of Age (cont.)
Nighttime bladder and bowel control achieved by 3 to 4 years of age. Large muscle development should enable the child to navigate stairs using alternating steps. Chapter 7 At 5 years a child can
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Nervous system many connections, called synapses, are made, enabling more skillful play. Language great strides are made. Vocabulary may reach Chapter 7 900 words by 3 years, and 1600
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3 years usually pleasant, enjoys music, has a sense of self. 4 years child tests limits, becomes more negative. 5 years child should be more self-assured, adjusted, and homeChapter 7 centered. Child can accept some
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Social Development
3 years children know what gender they are; they like to help. 4 years very social. Enjoy games. 5 years enjoy games with more rules.
Chapter 7 100

Aspects of Care
Maintain regular checkups, including a complete preschool physical. Immunizations must be kept up to date. Nighttime routines help a child feel secure.
Chapter 7 101
The Elementary School Child: Six to Ten Years

Girls tend to be taller and heavier than boys at this stage. Bones continue to ossify. Reproductive systems begin developing slowly. Postural habits are developed.
Chapter 7 102
The Elementary School Child: Six to Ten Years (cont.)

Progresses from brief attention span to being able to focus for extended periods of time. Moves from block letters to cursive handwriting. Speech may differ between peers and adults. Recognizes time concepts, Chapter 7 differentiates between fantasy and
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Parental influence decreases while peer influences increase as child approaches 10 years. Concerns shift from self to others. Child may become very sensitive to criticism.
Chapter 7 104

Social Development
School becomes very important to the child, along with group activities. Appropriate social behaviors are learned.
Chapter 7 105

Aspects of Care
Structure, schedule, and consistent daily activities are important. Activities must be monitored to prevent physical injury. Health and dental care and immunizations must be maintained.
Chapter 7 106
The Middle School Child: Eleven to Thirteen Years

Puberty occurs in girls at 12 to 13 years, but may start as early as 9. In boys, it starts around 14 years of age. Fusion of some bones occurs. Skin problems may begin, and appetite increases.
Chapter 7 107
The Middle School Child: Eleven to Thirteen Years (cont.)

Physical and psychological changes divert energy from academics. Child begins to think abstractly and critically. Exaggeration and fibbing may occur.
Chapter 7 108

Accurate information about their changing bodies should be given by a reliable source. Child may be temperamental or moody.
Chapter 7
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Social Development
Becoming part of a group becomes important. Girls become interested in malefemale relationships earlier than boys.
Chapter 7 110

Aspects of Care
Reassure the child that he or she is loved. Avoid being hypercritical. Dont make too many demands. Monitor friendships and associations. Maintain immunizations and regular health care checkups. Chapter 7 Allow some quiet time in the
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The Adolescent: Fourteen to Nineteen Years

Females attain their adult height and weight, while males continue to grow until age 25. Poor diet and exercise in this stage can lead to problems later in life. Education about sexual behavior should be provided by trusted, wellinformed adults. 7 Chapter
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The Adolescent: Fourteen to Nineteen Years (cont.)

Cognitive-Intellectual Development
Reasoning and critical and abstract thinking are developing.
Although aware of acceptable behavior, teens are prone to angry outbursts. Adolescents can feel both alone and conspicuous. Chapter 7 Often, teens feel immortal or
113

Social Development
Teens should learn effective interpersonal skills, resolve conflicts and become comfortable with their style of communicating. They tend to get involved in community service projects. They are more comfortable Chapter 7 relating to their parents.
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Problems Faced by Teens
Eating Disorders
Anorexia nervosa self-starving, more common in females. Bulimia binge eating, followed by purging through vomiting, excessive use of laxatives, abuse of diuretics, or excessive exercise.
Chapter 7 115

Substance Abuse Signs Change in personality, friends, health habits, and appearance. Withdrawal from family and group activities. Sliding school grades. At-risk teens are those who have: Family history of substance abuse. Low self-esteem. Depression. A sense of Chapter 7fitting in. not
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Violence
Poverty is considered a leading cause of violence in teens. Bullying in school is increasingly recognized as a cause of violence. Depressed students may harbor resentment for a long time.
Chapter 7
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Sexually Transmitted Diseases STDs that threaten long-term health and well-being include:
Chlamydia. Syphilis. Gonorrhea. Hepatitis B. Herpes type II. Papilloma virus. 7 Chapter HIV.
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Pregnancy problems associated with teen pregnancy include:

Low birth weight. Prematurity. Cesarean delivery. Child abuse. Growing up in poverty.
Chapter 7
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Suicide the third leading cause of death for people 15 to 24 years of age.
Warning signs include: Depression. Anger, directed inward. Alcohol and/or other substance abuse. Changes in habits. Giving away personal possessions. Giving verbal hints about committing 120 Chapter 7 suicide.


Actions to take if you suspect someone is contemplating suicide: Listen. Take the person seriously. Get help from a responsible adult. Do not promise to keep the secret. Never assume its just talk.
Chapter 7
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Aspects of Care
Provide adequate calcium and weightbearing exercise. Provide sex education and information about sexually transmitted diseases. Encourage friendships, sporting events, and social events. Listen to them. Chapter 7 122 Give them the facts.

Aspects of Care (cont.)
Trust them. Provide them with firm and friendly discipline. Be consistent. Educate them, with their independence in mind. Set limits and stick to them. Set examples of good behavior and taste. Chapter 7 123 Remember how it felt to be an
Section 7-2 Apply Your Knowledge

List three suicide warning signs.
Answer: Suicide warning signs are: 1. Depression. 2. Anger, directed inward. 3. Alcohol and/or other substance abuse. 4. Changes in habits. 5. Giving away personal possessions. 6. Giving verbal hints about committing suicide. Chapter 7
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The Adult Years

The Young Adult: Twenty to Forty Years The Middle-Aged Adult: Forty to Sixty-Five Years The Mature Adult Years: SixtyFive Years and Older
Chapter 7
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The Young Adult: Twenty to Forty Years

Growth has generally stopped, but calcium and regular weight-bearing exercise are still required. Visual acuity begins to decline, especially depth perception. Hearing loss may be noted, although it can begin as early as age 14.
Chapter 7 126
The Young Adult: Twenty to Forty Years (cont.)

Knowledge acquired through both formal training and on-the-job training. Critical thinking and reasoning skills are refined.
Chapter 7
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Long-lasting relationships are established. Careers can lead to stress and anxiety.
Chapter 7
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Social Development
Young adults establish careers, marriages, families, and homes. Friendships and relationships may be based more on interests than age. Contributing to the community becomes important.
Chapter 7 129

Aspects of Care
Weight-bearing and aerobic exercise should be continued to reduce and prevent bone loss. A balanced nutritional plan should be in place. The need for social contact continues, and may be fulfilled through church, school, and community activities.
Chapter 7 130
Stress management techniques are essential. Regular health checkups are important for preventive maintenance. Regular dental care is necessary, including cleaning and checkups twice a year.
Chapter 7 131
The Middle-Aged Adult: Forty to Sixty-Five Years

Females may experience bone loss as early as age 35. Men may not experience it until age 65. Muscle strength, endurance, and stamina may begin to decline. Hair may begin to turn gray and thin; wrinkles appear in the skin. Chronic health problems such as hypertension, heart disease, and Chapter 7 132 diabetes may surface.
The Middle-Aged Adult: Forty to Sixty-Five Years (cont.)

The brain begins to decrease in size, due to water loss. Information processing begins to slow. The individual is still capable of multitasking, learning new information, and retrieving old information.
Chapter 7 133

Many feel a sense of pride and accomplishment in their careers. Some may experience a sense of loss, known as the empty nest syndrome. An awareness of ones mortality may be noted.
Chapter 7 134

Social Development
Caring for an aging parent may lead to stress. Creative, social, and enjoyable outlets are important.
Chapter 7 135

Aspects of Care
Regular weight-bearing and aerobic exercise should be continued. A balanced nutritional plan should be in place. Adequate rest is needed to be able to perform daily tasks. The need for social contact continues. Stress-management techniques should be applied. Regular health and dental checkups should Chapter 7 136 continue.
The Mature Adult Years: Sixty-Five Years and Older

Physical Development The body begins to show physical signs of aging.
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The Mature Adult Years: Sixty-Five and Older (cont.)
Integumentary System
Thinning and wrinkling skin is caused by a decrease in collagen and elastin in the dermis. Atrophy, or degeneration, of the subcutaneous layer of skin is caused by a decrease in adipose tissue. Decrease in melanocytes, which produce pigment and protect against ultraviolet light. Graying, thinning hair and brittle nails. Decreasing inflammatory response, resulting in slower healing.
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Nervous System

Slower reaction time and thought processing. Decreased blood flow to the brain, caused by arteriosclerosis. Shortened attention span and difficulty in multitasking. Shrinkage of temporal lobes, leading to weaker signals to the brain for processing. Impairment of fine motor activities. Memory loss caused by changes in the brain. Impaired vision and hearing.
Chapter 7 139
Musculoskeletal System
Osteoporosis or decreased bone density. Osteoarthritis or joint disease. Decreased numbers of musculoskeletal fibers.
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Cardiovascular System
Decreased cardiac output, especially during exercise. Arteriosclerosis. Postural hypotension or loss of blood pressure when standing or sitting up abruptly. Increased risk of heart disease.
Chapter 7 141
Respiratory System

Some loss of elasticity of the lungs. Calcification of the intercostal cartilage. Increased shortness of breath, caused by the physical changes listed above.
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Immune System
General decline, giving rise to susceptibility to infectious diseases and autoimmune diseases such as cancer and rheumatoid arthritis.
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Digestive System
Constipation, caused by lack of exercise and poor diet. Fecal incontinence, caused by lack of muscle tone.
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Genitourinary System
Decreased number of nephrons, the functional units of the kidney. Reduced tolerance for stress, so the kidneys may respond to disease in other parts of the body. Loss of voluntary control of urination.
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Endocrine System

Decreased thyroid function. Loss of estrogen production in females. Decreasing levels of aldosterone, a hormone that has a role in regulating blood pressure. Increased delay in return of cortisol to normal levels after stressful events. Deficiencies in response to insulin by various organs.
Chapter 7 146
Although information is processed slowly, mature adults can continue to learn. Long-term memory seems to remain intact; short-term memory may be less acute. The wealth of knowledge accumulated tends to make mature adults great teachers.
Chapter 7 147

Retirement can lead to a sense of loss or grief. Mature adults must increasingly deal with death, as that of a spouse or friends.
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Social Development
Some mature adults experience an increased spirituality. Many live in retirement homes or communities. Grandchildren may become a source of pleasure.
Chapter 7 149

Aspects of Care
Regular weight-bearing and aerobic exercise should be continued to reduce and prevent bone loss. A balanced nutritional plan should be maintained.
Chapter 7 150

Aspects of Care (cont.)
The need for sleep may decrease, but short periods of rest throughout the day may offset the loss. Social contact should persist. Regular health and dental checkups should continue. Individuals should maintain active interests. Chapter 7
151
Section 7-3 Apply Your Knowledge

List some signs of aging. Answers: 1. Thinning and wrinkling skin. 2. Graying and thinning hair. 3. Slower healing. 4. Slower reaction time. 5. Impairment of fine motor activities. 6. Impaired vision and hearing. 7. Decreased bone density. 8. Increased riskChapterheart disease. of 7
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Procedures in Student Text

7A 7B 7C 7D Measuring the Infant Measuring Head Circumference Measuring the Toddler Measuring the Adult
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Chapter 7 Credits
Slide 9 Slide 10 Slide 16 Slide 21 Slide 24 Slide 29 Slide 33 Slide 40 Slide 41 Slide 46 Slide 54 Slide 59 Slide 61 Slide 63 Slide 77 Slide 82 Slide 84 Slide 98 Neil Harding/Getty Images Neil Bromhall/SPL/Photo Researchers Neil Harding/Getty Images Total Care Programming, Inc. Nancy Durrell McKenna/Photo Researchers Laura Dwight/Photo Edit (left) & PhotoDisc (right) John Fortunato Myrleen Ferguson Cate/Photo Edit Paul Steel/CORBIS Mark C. Burnett/Photo Researchers Pictures Unlimited CORBIS Tony Freeman/PhotoEdit Yang Liu/CORBIS David J. Sams/Stock Boston PhotoDisc PhotoDisc PhotoDisc Chapter 7
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LABORATIUM & TUMBUH KEMBANG

Growth & Development

Kuliah Ilmu Patologi Klinik Fakultas Kedokteran UKRIDA

Dominant and Recessive Genes

Sex Linked Traits

Physical and Psychological Development Related

Prenatal environment can have lifetime

Preconception Obstetrics CHC Health QoL Wellbeing etc.

Elderly perspective Newcastle 85+ cohort

66, 33, 40, 20%

Yet clearly frail, and considerable unmet needs!

AGEING STARTS IN UTERO

Analisis cairan amnion, bila terindikasi

Toksoplasma Sifilis HIV

Kuliah Neonatal Screening NS

Hipotiroidi Kongenital HK Phenylketonuria PKU

Basic Ethical Principles of Neonatal Screening

Glucose + galactose Glucose + fructose

lactose + H2O sucrose + H2

Uji Tapis Hipotiroidi

Tujuan Uji Saring Kelenjar Tiroid

Penyebab Acquired pr.. hypothyroidism

Iodine deficiency Iodine excess antiseptica, or other iodine contained agents

Parameter Uji Saring CHT: TSH

for primary hypothyroidism

an elevated TSH is much more sensitive than a low T4 level

Timing for screening blood sample

independent of gestational age day 3 p.p.(>48h) in all newborns

Fungsi tiroid janin & neonatus

TSH cut off

Uji Tapis/Skrinig Phenylketonuria/ PKU

Phenylketonuria: Screening and

Living with PKU

Cara Diagnosis PKU

Pentingnya Diagnosis Dini PKU

Tujuan diet PKU

Transisi ke makanan padat

Diet PKU seumur hidup

Ibu Hamil dengan PKU 1/2

Ibu Hamil dengan PKU 2/2

Percent of people who have G6PD Deficiency

Congenital adrenal hyperplasia (CAH)

Salt wasting form may be lethal in neonates

SERUM 17OHprogesterone (21OHase)

SERUM deoxycorticosterone, 11deoxycotisol (11- OHase) Treatment : cortisol

21-hydroxylase deficiency congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia/CAH

absence of 21 hydroxylase activity

Dewasa Pria, Wanita

Epigenetic Biology of Normal Cells

Epigenetic Biology of Normal Cells

Functional Interactions between DNA and Histones

Conception to Full Term

Conception to Full Term (cont.)

Conception to Full Term (cont.)

Conception to Full Term (cont.)

Conception to Full Term (cont.)

Conception to Full Term (cont.)

Conception to Full Term (cont.)

Conception to Full Term (cont.)

The Neonate: Birth to One Month

The newborns head is large in comparison with rest of body.

The Neonate: Birth to One Month (cont.)