Crecimiento y desarrollo 2


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Crecimiento y desarrollo 2

  1. 1. Crecimiento y Desarrollo Dr. Mauricio Carmona R Departamento de Neonatología Hospital Infantil de México “Federico Gómez”
  2. 2. Retardo en el crecimiento intrauterino
  3. 3. Curvas de crecimiento -10 10 30 50 70 90 110 130 150 1er año 1-5 años 5-10 años 10-15 años 15-20 años +20 años General Somático Neural Genital Linfático
  4. 4. • Birthweight less than 1500 grams. • Assisted ventilation for more than 48 hours during the first 28 days of life. • Prolonged perinatal hypoxemia, acidemia, neonatal hypoglycemia, or repetitive apnea. • Cardiorespiratory depression at birth which may include infants with Apgar scores of 0-3 at five minutes, infants who fail to institute spontaneous respiration by ten minutes, and infants with hypotonia persisting to two hours of age. • History of seizure activity. • Documented abnormal intracranial pathology, including intracranial hemorrhage (other than Grade I IVH) and cerebral thrombosis. • Other potential neurologic problems, e.g., history of central nervous system infection, documented sepsis, bilirubin in excess of usual exchange transfusion level, etc.
  5. 5. versus expectant management for delivery of the small baby (Cochrane Review) Grant A, Glazener CMA• There is not enough evidence to evaluate the use of a policy for elective caesarean delivery for small babies. Randomised trials in this area are likely to continue to experience recruitment problems. However, it still may be possible to investigate elective caesarean delivery in small babies with cephalic presentations.
  6. 6. Sign Score=0 Score=1 Score=2 Heart Rate Absent Below 100 Above 100 Respiratory Effort Absent Weak, irregular, or gasping Good, crying Muscle Tone Flaccid Some flexion of extremities Well flexed, or active movements of extremities Reflex Irritability No response Grimace or weak cry Good cry Color Blue all over, or pale Acrocyanosis Pink all over
  7. 7. Birthweight Curves California Male Birthweights California male singleton Caucasian non-Hispanic birthweights by gestational age: 10th, 50th, and 90th percentiles.
  8. 8. California female singleton Caucasian non-Hispanic birthweights by gestational age: 10th, 50th, and 90th percentiles. California Female Birthweights
  9. 9. CSMC NICU Statistics: Survival by Gestational Age
  10. 10. • Physical Examination: • General Petichiae, rash, evidence of birth trauma, lacerations, jaundice? Weight <1800 gm?Fontanelle Bulging, depressed, anterior fontanelle abnormally large (>2x2 cm), posterior fontanelle open? HEENT Caput succadaneum? (Soft, ill defined in outline, represents edema of the scalp e.g. often seen after suction extraction) Cephalhematoma? (Doesn't cross suture lines, usually appears on 2nd day of life.) Eyes? Ears normally positioned? Nares patent? Cleft lip or palate? Neck masses? NG tube passes OK?Chest Breath sounds equal? Good air entry? Presence of stridor, wheezing, flaring, retracting, grunting, cyanosis in room air?CVS Rate >120 and regular? Murmers? Normal PMI? Femoral pulses easily palpated?Abdomen Masses? Size of liver and spleen below mid-costal margin? Distension? Scaphoid? 3-vessel cord?GU If male, testes descended bilaterally? Inguinal masses? Hypospadias? If female, bulging hymen (imperforate)?Back Midline defects? Anus patent?Neuro Alertness? Tone? Symmetric movement? (Erbs Palsy: lack of movement in one arm.) Facial palsy? Moro, grasp, suck, cry, Babinski? Evidence of neural tube abnormalities?
  11. 11. General • Measure and record height, weight, and head circumference. If the infant appears premature or is unusually large or small, perform a Dubowitz/Ballard exam to assess gestational age (see Dubowitz/Ballard scoring grid). The exam is divided into two parts: an external characteristics score, which is best done at birth, and a neuromuscular score, which should be done within 24 hours after birth.
  12. 12. Small for gestational age (SGA) • Symmetric (HC = Wt = Len, all <10 %ile) -- 33% of SGA infants • Genetic – Small maternal size – Chromosomal abnormalities (Trisomies 13, 18, 21, and Turner's syndrome) – Congenital abnormalities • Intrauterine infections – Viruses (rubella, CMV, ?varicella, ?HIV) – Bacteria (tuberculosis) – Spirochete (syphilis) – Protozoan (toxoplasmosis, malaria) • Inborn errors of metabolism – Hypophosphatasia – Leprechaunism – Some amino acidurias • Environmental – Drugs (heroin, methadone, ethanol, diphenylhydantoin) – X-rays (therapeutic) – Smoking
  13. 13. • Asymmetric (HC = Len > Wt, Wt <10 %ile) -- 55% of SGA infants • Uteroplacental insufficiency -- onset usually after 24 weeks – Chronic hypertension – Preeclampsia – Renal disease – Cyanotic heart disease – Hemoglobinopathies – Placental infarcts or chronic abruption, velamentous insertion, circumvallate placenta, multiple gestation. – Altitude
  14. 14. • Combined (symmetric or assymetric) -- 12% of SGA infants • Environmental – Drugs (including ethanol) – Smoking • Placental unit insufficiency – Placental infarcts or chronic abruption, velamentous insertion, circumvallate placenta, multiple gestation.
  15. 15. Large for gestational age (LGA) • Infants of diabetic mothers • Beckwith-Wiedemann syndrome • Hydrops fetalis • Large mother
  16. 16. Neurological Exam • State of alertness • Check for persistent lethargy or irritability. • Posture • In term infant, normal position is one with hips abducted and partially flexed and with knees flexed. Arms are adducted and flexed at the elbow. The fists are often clenched, with fingers covering the thumb.
  17. 17. Neurological Exam • Tone • Support the infant with one hand under his chest. The neck extensors should be able to hold the head in line for 3 seconds. Should not have more than 10% head lag when moving from supine to sitting position. • Reflexes • Reflexes must be symmetrical. Biceps jerk test C5 and C6, Knee jerk tests L2-L4, Ankle jerk tests S1, S2. Truncal incurvation reflex tests T2 through S1. Anal wink test S4, S5. Other primitive reflexes include the Moro, palmer and planter grasps, sucking and rooting reflexes, and the asymmetric tonic neck reflex (ATNR). Asymmetric tonic neck reflex (seen in ventral suspension with arms rigidly extended and fists clenched) is abnormal.
  18. 18. When reflexes appear and disappear: Reflex Appears Disappears Moro Newborn 3 months Grasp Newborn 3 months LE crossed extensors Birth 1 month Extensor plantar Newborn 8-12 months Placing/stepping Birth 1-2 months ATNR Newborn 3 months REFLEXES
  19. 19. Dubowitz/Ballard Exam for Gestational Age Neuromuscular Maturity
  20. 20. • Posture: With the infant supine and quiet, score as follows: • Arms and legs extended = 0 • Slight or moderate flexion of hips and knees = 1 • Moderate to strong flexion of hips and knees = 2 • Legs flexed and abducted, arms slightly flexed = 3 • Full flexion of arms and legs = 4
  21. 21. • Square Window: Flex the hand at the wrist. Exert pressure sufficient to get as much flexion as possible. The angle between the hypothenar eminence and the anterior aspect of the forearm is measured and scored: • >90 degrees = -1 • 90 degrees = 0 • 60 degrees = 1 • 45 degrees = 2 • 30 degrees = 3 • 0 degrees = 4
  22. 22. • Arm Recoil: With the infant supine, fully flex the forearm for 5 seconds, then fully extend by pulling the hands and release. Score the reaction: • Remains extended 180 degrees, or random movements = 0 • Minimal flexion, 140-180 degrees = 1 • Small amount of flexion, 110-140 degrees = 2 • Moderate flexion, 90-100 degrees = 3 • Brisk return to full flexion, <90 degrees = 4
  23. 23. • Popliteal Angle: With the infant supine and the pelvis flat on the examining surface, the leg is flexed on the thigh and the thigh fully flexed with the use of one hand. With the other hand the leg is then extended and the angled scored: • 180 degrees = -1 • 160 degrees = 0 • 140 degrees = 1 • 120 degrees = 2 • 100 degrees = 3 • 90 degrees = 4 • <90 degrees = 5
  24. 24. • Scarf Sign: With the infant supine, take the infant's hand and draw it across the neck and as far across the opposite shoulder as possible. Assistance to the elbow is permissible by lifting it across the body. Score according to the location of the elbow: • Elbow reaches or nears level of opposite shoulder = -1 • Elbow crosses opposite anterior axillary line = 0 • Elbow reaches opposite anterior axillary line = 1 • Elbow at midline = 2 • Elbow does not reach midline = 3 • Elbow does not cross proximate axillary line = 4
  25. 25. • Heel to Ear: With the infant supine, hold the infant's foot with one hand and move it as near to the head as possible without forcing it. Keep the pelvis flat on the examining surface. Score as shown in the diagram above
  26. 26. Physical Maturity Sign -1 0 1 2 3 4 5 Skin Sticky, friable, transparent Gelatinous red, translucent Smooth pink, visible veins Superficial peeling and/or rash, few veins Cracking, pale areas, rare veins Parchment, deep cracking, no vessels Leathery, cracked, wrinkled Lanugo None Sparse Abundant Thinning Bald areas Mostly bald Plantar Crease s Heel-toe 40-50 mm = -1, <40 mm = -2 Heel-toe >50 mm, no creases Faint red marks Anterior transverse crease only Creases over anterior 2/3 Creases over entire sole Breast Imperceptible Barely perceptible Flat areola, no bud Stippled areola, 1-2 mm bud Raised areola, 3- 4 mm bud Full areola, 5-10 mm bud Eye & Ear Lids fused, loosely = -1, tightly = -2 Lids open, pinna flat, stays folded Slightly curved pinna, soft with slow recoil Well-curved pinna, soft but ready recoil Formed and firm, with instant recoil Thick cartilage, ear stiff Genitals , male Scrotum flat, smooth Scrotum empty, faint rugae Testes in upper cannal, rare rugae Testes descending, few rugae Testes down, good rugae Testes pendulous, deep rugae Genitals , female Clitoris prominent, labia flat Prominent clitoris, small labia minora Prominent clitoris, enlarging minora Majora and minora equally prominent Majora large, minora small Majora cover clitoris and minora
  27. 27. Maturity Rating Add up the individual Neuromuscular and Physical Maturity scores for the twelve categories, then obtain the estimated gestational age from the table below. Total Score Gestational Age, Weeks -10 20 -5 22 0 24 5 26 10 28 15 30 20 32 25 34 30 36 35 38 40 40 45 42 50 44 Ballard, JL, et al, Journal of Pediatrics, September 1991, page 417.
  28. 28. Growth of Premature and SGA Infants • Growth of premature and SGA infants is assessed by comparison with the intrauterine and postnatal growth of full-term infants. Nutritional rehabilitation of premature and SGA infants should begin as soon as possible to approximate continued growth at intrauterine rates. In all infants, there is a brief period of physiologic weight loss postnatally, which may be exacerbated by illness and caloric deprivation. When this period of postnatal weight loss ends, catch up growth should occur. During catch up growth, rates of gain for corrected age exceed intrauterine and postterm velocities of full- term infants. • Premature infants without serious medical illness show maximal catch-up growth from 36 to 44 postmenstrual weeks, and growth measures are between the 10th and 90th percentile for corrected age. Extremely premature infants and infants with chronic medical illness exhibit slower catch-up growth occurring over a longer period of time.
  29. 29. 1. Weight • : From 32 postmenstrual weeks to 1 month postterm, mean attained weights of AGA infants follow the 10th percentile of the intrauterine curves for normal full-term infants. Mean weights of infants 2 to 18 months of age range from 0 to 1 SD below the mean. Weights follow the same weight curve as full term controls from 2 to 5 years with nonsignificant but slightly lower values. Weights should be corrected for gestational age of the child until 24 months, when difference between corrected and uncorrected ages are no longer statistically significant. From term to between 1 and 2 months postterm, growth velocity of premature infants withpout a serious illness during the catch-up growth phase exceeds that of the term infant of the same postmenstrual age. Velocities of both groups coincide after 2 months.
  30. 30. 2. Length • : From 30 to 40 postmenstrual weeks, mean length of AGA infants falls below the 50th percentile of intrauterine curves. After term, the mean length difference between AGA premature and full-term infants decreases from 2.5 cm at term to 1.2 cm at 18 months. Length and height values should be corrected for for gestational age to 31/2 year, after which age a mean difference of 1 cm between corrected and uncorrected values will not show a significant difference in percentiles. Catch-up growth rates in length of premature infants exceed velocities of full-term infants from 1.5 months to 7.5 months postterm. From 7.5 months to 5 years, AGA premature infants grow in length at the same rate or slightly faster than full- term infants
  31. 31. 3. Head circumference: • The difference in the mean head circumference of AGA premature infant at corrected and uncorrected ages decreases from 6.5 cm at birth to 0.5 cm at 17 months. Head circumference is corrected for gestational age to 18 months postterm. Maximal catch-up growth in head circumference is demonstrated during 30 to 40 postmenstrual weeks. Velocity decreases markedly from 6 months after term.
  32. 32. Age 0-6 months 6-12 months 12-24 months 24-36 months Weight (gm/day) 23.0 14.4 6.8 5.5 Length (cm/mo) 2.8 1.6 1.0 0.7 Head circumfere nce (cm/mo) 1.4 0.7 0.2 0.1 Median Postterm Growth Velocities (50th percentile):
  33. 33. Small for Gestational Age Infants • SGA full-term infants who will demonstrate catch-up growth do so by 8 to 12 months corrected age. Symmetric SGA infants may nor demonstrate catch- up growth in weight, height, or head circumference, or may have growth rates lower than those of asymmetric SGA infants. Growths for corrected age should parallel norms for full-term infants. • Catch-up growth in asymmetric SGA infants is most rapid in the first 3 months of life. Length velocity is similar among asymmetric, symmetric, and full term infants to 36 months of age. Because of the initial difference in length at birth, attained mean length of asymmetric infants is similar to that of normal infants but exceeds the length of symmetric SGA babies from term to 36 months. • The SGA infants who exhibit catch-up head growth have smaller circumference than AGA prematurte infants from 34 postmenstrual weeks to 12 months postterm. However, by 2 months, these differences are negligible. By 12 months, the mean difference between the two groups is 0.2 cm. Compared with symmetric SGA infants, the asymmetric infants have significantly larger head circumference up to 30 months of age.
  34. 34. Microcephaly • Division of Neonatology, Cedars-Sinai Medical Center, Los Angeles, California. Microcephaly is defined by a head circumference, as measured around the glabella and occipital protuberance, that is more than 2 standard deviations below the mean for age, sex, race, and gestation. Microcephaly is always caused by microencephaly, a small brain, and the two terms are used interchangeably. In the normally shaped head the occipital frontal circumference is an index of cranial volume. Where the head shape is abnormal, as in certain forms of craniosynostosis, the head circumference is not a valid index of cranial volume and does not correlate with microcephaly.
  35. 35. • Microcephaly has generally been equated with mental retardation. However, not all children with head circumference less than 2 standard deviations are mentally retarded. A child with "measurement microcephaly" who is of small stature because of familial factors or growth retardation secondary to malabsorption or cardiac disease is, therefore, not in the same category from the standpoint of CNS function as one with microcephaly resulting from organic brain disease. Twenty-five percent of hypopituitary dwarfs with normal IQ were microcephalic. Normal intelligence was also measured in 40% of those infants after exposure to the atomic bombs as fetuses. • An abnormally small brain either is caused by anomalous development during the first 7 months of gestation (primary microcephaly), or is the result of an insult incurred during the last 2 months of gestation or during the perinatal period (secondary microcephaly). It can also be classified as congenital or acquired.
  36. 36. • Congenital microcephaly may follow intrauterine infections with rubella, CMV, Toxoplamosis. Congenital microcephaly is also a part of many chromosomal abnormalities and other syndromes. Most common conditions associated with primary microcephaly include: • Gross chromosomal abnormalities – Trisomy 18 – Trisomy 13 – Wolf-Hirschhorn syndrome – Cri du Chat syndrome – Partial deletion of long arm of 13 • Contigous gene syndromes – Miller-Dieker syndrome – Langer-Giedion syndrome – Prader-Willi syndrome – Aniridia-Wilms tumour syndrome • Autosomal recessive disorder – Johanson-Blizzard syndrome – Seckel syndrome – Smith-Lemli-OPitz syndrome – Coffin-Siris syndrome (?) • Rubinstein-Taybi syndrome • Maternal PKU
  37. 37. • Congenital (primary) microcephaly can also result from a variety of insults that cause anomalies of induction and migration. The condition may be autosomal recessive or associated with chromosomal disorders. The infants are abnormal at birth. They not only have a small head but also have characteristic facial and cranial configurations. Their rounded heads, with small or absent anterior fontanel and recessed or sloped forehead indicative of the shallow anterior cranial fossa, readily identify them as infants with severe morphologic cerebral abnormalities. Some demonstrate immediate signs of neurologic dysfunction such as hypotonicity, hypertonicity, or an abnormal cry, whereas others function surprisingly normally for the first few months of life. Acquired microcephaly may result from perinatal infections such as herpes simplex, from intrapartum or neonatal hypoxic-ischemic insults, and from metabolic causes, including aminoacidurias and hypothyroidism. In these patients, head circumference is normal at birth, but the rate of brain growth is impaired, with resultant microcephaly
  38. 38. • Anencephaly is a variable malformation of brain development in which the cerebral hemispheres are virtually absent and brain stem structures are variably affected. There is a variable inherited component to this disorder. Antenatal diagnosis is aided by finding of elevated alpha-fetoprotein levels in amniocentesis. Furthurmore, the accompanying absence of bony structures of the skull leads to a characteristic froglike appearance on antenatal ultrasound. There is no possibility for long-term survival in these patients. • Lissencephaly is near-total or total absence of cerebral convolutions (agyria), reminiscent of fetal brain during the second to fourth months' gestation. This is a feature of many syndromes including Mueller-Dieker syndrome. The clinical picture includes microcephaly, hypotonia, and seizures, most commonly infantile spasms. • Pachygyria is characterized by relatively few broad gyri and shallow sulci. It appears to represent a developmental arrest of maturation and cell migration at a slightly later stage, with the result being abnormally broad, flat cerebral convolutions with a thick cerebral cortex. The ventricular system is slightly enlarged, and other anomalies, such as areas of gray matter heterotopia, are usually present in these types of malformed brains. • Polymicrogyria is more often associated with hydrocephalus than microcephaly and is characterized by either localized or generalized excessive and small cerebral convolutions. The clinical picture is one of mental retardation and spaticity, or hypotonia with active deep tendon reflexes ("atonic cerebral palsy").
  39. 39. • Each infant with microcephaly deserves a complete evaluation and determinations of the cause if at all possible. This should include serologic studies for TORCH agent infections, CT scan, and amino acid screening. The presence of other somatic abnormalities may lead to chromosomal evaluation. There is no treatment for microcephaly.
  40. 40. Newborn Screening for Metabolic Disorders Prepared by Sharon Galvis, RN, NNP, Cedars-Sinai Medical Center NICU • Development of Screening Tests • 1950's -- impetus was PKU and determination that early detection could prevent / minimize mental retardation. • 1962 -- Dr. Guthrie developed bacterial inhibition assay for phenylalanine -- test required only few drops of blood on filter paper. • Mid 1960's -- PKU became routine newborn screening test -- discovery that additional tests for other diseases could be added.
  41. 41. Principles of Newborn Screening • Disorders in which symtoms would not be clinically present until irreversible damage occurred and for which there is an effective treatment. • Prevalence of the disorder in the population. • Simple collection method. • Reproducible with few false positives/negatives.. • High benefit-to-cost ratio. • Means of follow up of abnormal results
  42. 42. Specimen Collection • Dried filter paper blood spots. • Infant < 72 hrs of age and preferably after 24 hours of protein feeding. • Obtained prior to blood transfusion. • Avoid cross-contamination. • Problems with early discharge.
  43. 43. State Mandated Newborn Screening • PKU and Congenital Hypothroidism -- all 50 states. • Galactosemia - 44 states; maple syrup urine disease - 23 states; homocystinuria - 21 states; biotinidase deficiency - 16 states; sickle cell disease - 42 states; tyrosinemia - 7 states. • Other states have added congenital toxoplasmosis, congenital adrenal hyperplasia, cystic fibrosis. • California Newborn Screen: – PKU – Galactosemia – Hypothyroidism – Sickle Cell and other Hemoglobinopathies
  44. 44. Metabolic Disorders PKU – Amino acid disorder – Enzyme deficiency - phenylalanine hydroxylase – Failure in conversion of phenylalanine to tyrosine – Incidence: 1:12,000 live births in US – Accumulation of phenylalanine: • Classic PKU => 20 mg/dL with normal or reduced level of tyrosine • Atypical PKU = 12-20 mg/dL • Mild persistent hyperphenylalaninemia=levels 2-12 mg/dL • Can result from deficiency of cofactor tetrahydrobiopterin (BH4) – Symptoms • Developmental delay • Severe mental reatrdation • Seizures • Autism • Eczema • Hyperactivity • Aggressive behavior – Treatment • Phenylalanine restricted diet instituted by 3 weeks of age • Frequent monitoring of blood levels and diet adjustments • Cofactor defects require BH4 replacement and neurotransmitter precursors L-dopa and 5- hydroxytryptophan – Outcome • Early treatment prevents mental retardation and neurologic abnormalities, learning disabilities still present • Continuation of diet indefinitely is recommended to prevent decreases in IQ and maternal PKU (microcephaly, congenital heart disease, IUGR) • Treatment of cofactor deficiencies has not prevented the mental retardation or neurologic abnormalities
  45. 45. Congenital Hypothyroidism • Incidence in US: 1:3,600-5,000 live births • Measure T4/TSH -- if levels are below lab cutoff, repeat specimen requested • 10% cases can be missed by sampling errors • Normal variations in premature, maternal antithyroid medication, exposure to topical iodine,hypoalbuminemia -- test may need to be repeated • Symptoms – Mental retardation – Neurologic abnormalities – Metabolic symptoms of hypothyroidism • Treatment – L-thyroxine to maintain T4 levels in the upper half of the normal range – Treatment within first 3 months of life associated with prevention of mental retardation and complications of the disease
  46. 46. Galactosemia • Prevalence 1:40,000 live births • Deficiency of galactose-1-phosphate uridyltransferase • Symptoms of untreated galactosemia – Lethargy – Feeding intolerance – Vomiting – Hyperbilirubinemia – Liver dysfunction with coagulopathy – 25% will develop sepsis in first 1-2 weeks if untreated • Screening: measure galactose and galactose-1-phosphate; confirmation by measurement of the enzyme in erythrocytes • Treatment – Dietary lactose restriction at time of diagnosis – Evaluate for sepsis immediately and treat promptly to prevent complications of mental retardation, cataracts, and cirrhosis • Outcome – Speech abnormalities – Behavior problems – Visual perceptual learning abnormalities – Ovarian failure (recently described complication in girls) • Three other inborn errors of galactose metabolism are known – Variant forms of transferase deficiency occur with 10-35% of normal transferase activity. baby usually asymptomatic – Galactokinase deficiency: incidence 1:1 million live births • Cataracts – Uridinediphosphate-galactose-4-epimerase deficiency: asymptomatic or have classical galactosemia
  47. 47. Sickle Cell Disease and other hemoglobinopathies • Includes hemoglobin SS disease, hemoglobin SC, and sickle- thalassemaia -- all result from abnormal Beta-chains of hemoglobin. • Incidence in blacks approx. 1:400 • Symptoms – Severe anemia – Hypoplastic crises induced by infection – Overwhelming sepsis – Pneumonia or meningitis – Sudden and massive splenic sequestration – Chronic debilitation • Screening: hemoglobin electrophoresis by cord blood or dried filter paper blood spot. No false positives seen. Early diagnosis may not effect outcome of this disease. May afford early treatment of complications and allow for genetic counseling and reproductive choices
  48. 48. Glucose-6-Phosphate Dehydrogenase Deficiency • Incidence: 1:100-1:10 for Mediterranean, African and American Black; 1:50-1:33 for Southeast Asian • Sex-linked affecting primarily males; females variably affected • Hemolytic disorder -- enzyme deficient RBCs are unable to protect against oxidative effects of infection or certain drugs where accumulation of peroxides causes breakdown of red cell membrane, enzymes and hemoglobin • Severe hemolysis and hyperbilirubinemia is seen only in Caucasions and Asians; blacks less severely affected • Treatment – Prevent kernicterus by managing hyperbilirubinemia with exchange transfusion or phototherapy. – Replace red cells if significant anemia • Screening is by fluorescent spot test which measures the absence of the enzyme; confirm diagnosis by quantitative analysis
  49. 49. Gamma-Glutamyl Cycle Disorders • Glutathione (GSH) is an intermediary in the gamma-glutamyl cycle, normally found in erythrocytes in high concentrations • Role of GSH: transport of amino acids across cell membranes and reductant of toxic peroxidases, protecting hemoglobin against destructive effect of oxidation • Several Gamma-Glutamyl disorders associated with decreased levels of GSH • Symptoms – Vomiting – Diarrhea – Abdominal pain – If untreated congenital non-spherocytic anemia, metabolic acidosis, or pyroglutamic aminoaciduria • Autosomal recessive • Screening spot test: measures the presence of reduced glutathione
  50. 50. Congenital Adrenal Hyperplasia • Autosomal recessive disorder in the biosynthesis of adrenal corticoids due to a deficiency of one of several enzymaic systems required for complete steroid biogenesis • Most common form of CAH is due to 21-hydroxylase deficiency (90% of cases); in 2/3 increased androgen production • Females: ambiguous genitalia and salt-losing crises. Milder forms -- premature sexual hair development, acne, hirsutism, acceleration of growth • Incidence: 1:10000-1:15000 live births; higher in southwestern Alaska Eskimos • Screening test measures level of 17-hydroxyprogesterone in the dried filter paper blood spot. Affected infants have high levels. • False positives seen in prematurity and low birth weight, also illness, early screening (<24 hrs of age) • Rationale for screening: early treatment to prevent complications seen in undiagnosed affected newborns, incorrect sex assignment in females, prevention of salt losing crisis
  51. 51. Maple Syrup Urine Disease • Deficiency of branched--chain ketoacid dehydrogenase that results in the accumulations of the branched-chain amino acids leucine, isoleucine and valine and their respective ketoacids • Incidence: 1:200,000 live births • Infants appear normal at birth; if untreated, by end of first week develop feeding intolerance, vomiting and lethargy. Progresses to severe ketoacidosis and death. If survives the neonatal period, mental retardation and neurologic impairment develop. Milder form also exists. • Screening: test for leucine by bacterial inhibition assay on dried blood filter paper • All deaths and morbidity can not be prevented since results of test may not be available soon enough • Treatment: diet restriction; peritoneal dialysis may be necessary in ketoacidosi
  52. 52. Homocystinuria • Deficiency of enzyme cystathionine synthase that catalyzes the conversion of homocysteine to cystathionine, with accumulation of toxic levels in blood or urine • Incidence: 1:100,000-1:200,000 • Untreated can lead to mental retardation, marfanoid body, dislocation of lenses of eye, osteoporosis, thromboembolic disease • 1/2 are pyridoxine sensitive • Screening test measures methionine in dried filter paper specimen. May not have rise in methionine in first few days -- confirmation by blood and urine amino acids • Treatment with pyroxidine is effective for that form of the disorder, also, methionine restricted diet • Biotinidase deficiency
  53. 53. Biotinidase deficiency • Enzyme necessary for recycling of biotin which activates the four mitochondrial carboxylases • Incidence: 1:40:000 • If untreated, patients present in early months to years with alopecia, skin rashes, fungal skin infections, seizures, developmental delay, hypotonia, ataxia, hearing deficit, and visual abnormalities. Organic aciduria and ketoacidosis can occur later. • Screening : colorimetric assay for biotinidase on dried filter paper blood spot. Confirmation of diagnosis by serum levels • Treatment with oral biotin eliminates some of physical and neurologic abnormalities
  54. 54. Cystic fibrosis • Incidence: 1:2000 Caucasian • Most common lethal inherited metabolic disorder in whites • Causes severe pulmonary disease and pancreatic insufficiency, hepatic cirrhosis • Autosomal recessive • Screening – Measurement of immunoreactive trypsin (IRT) in the dried filter paper blood spot. Affected newborns have elevated levels. – Second test is usually requested in 2 weeks if first positive. – If second test positive, infant referred for sweat test for definitive diagnosis. – Increased false negative rate in infants with meconium ileus; 5%-10% with cystic fibrosis may have normal IRT when first tested. – Some recommend combination of IRT, sweat test and genetic mutation analysis for primary or recall testing. One study showed increased incidence of false positives using the IRT/sweat test protocol vs IRT/DNA test -- costs were similar • Does early detection prevent mortality and morbidity? – Proposed benefits: shorter hospitalization, better weight gain, fewer chest infections, identification of couples at risk for counseling – Risks: psychological stress for families awaiting diagnosis, possible errors in diagnosis, complications of early antibiotic therapy
  55. 55. Toxoplasmosis • • Toxoplasma gondii -- parasite that can cause intrauterine infection with transmission to fetus by transplacental-fetal hematogenous route; organism invades brain, eye and striated muscle forming tissue cysts • Incidence of congenital infection 1:1000 live births • Transmission rate increases with progression of gestation; infections transmitted during early gestation cause more severe fetal effects -- abortion, stillbirth, teratogenesis. • In fetus or neonate typically CNS and/or eyes involved. Classic triad: obstructive hydrocephalus, chorioretinitis, intracranial calcification. • Risk factor - cats vector, unpasteurized milk , undercooked meats, blood transfusion • Screening-measurement of toxoplasma-specific IgM in the dried filter paper blood spot. Identified infants referred to ID specialists of evaluation and early institution of therapy • No studies yet available to determine benefits of early detection and treatment
  56. 56. Conclusions • Changes in newborn screening programs – Addition of several newer disorders • Duchenne Muscular Dystrophy • Congenital AIDS • Neuroblastoma – Alteration in basic principles • Uncertainty about true benefit to early detection and therapy • Advances in molecular genetics – Diagnosis by DNA mutation analysis, using allele-specific oligonucleotide probes • Issues related to false positives/negatives – Need for repeat specimens – Caution in making diagnosis – Screening tests are not diagnostic -- additional definitive testing needed – Necessary to confirm or rule out • Problems with early discharge – Need for close follow up and repeat specimens – Insufficient time for ingestion of protein for amino acid elevations – Still mandatory that blood specimens be obtained prior to discharge and repeated in 2 weeks
  57. 57. Total Body Water (TBW) in Newborns Distribution of TBW Gestational Age (weeks) Total Body Water, % Extracellular Water (ECW), % Intracellular Water (ICW), % </TD< TR> 24 86 60 26 </TD< TR> 28 84 57 26 </TD< TR> 30 83 55 28 </TD< TR> 32 82 53 29 </TD< TR> 34 81 51 30 </TD< TR> 36 80 49 31 </TD< TR> Term 78 45 33 </TD< TR>
  58. 58. Expected Weight Loss Gestational Age (weeks) Loss as % Body Weight </TD< TR> 26 15-20 </TD< TR> 30 10-15 </TD< TR> 34 8-10 </TD< TR> Term 5-10 </TD< TR>
  59. 59. TABLE 1 Terms Related to Prematurity • Premature infant – An infant born before 37 weeks of estimated gestational age • Low birth weigh – Birth weight <2,500 g (5 lb, 8 oz) • Very low birth weight – Birth weight <1,500 g (3 lb, 5 oz) • Extremely low birth weight – Birth weight <1,000 g (2 lb, 3 oz) • Chronologic or birth age – Time since birth • Gestational age – Estimated time since conception; – postconceptional age • Corrected age – Age corrected for prematurity
  60. 60. Feeding • Caloric intake, fluid intake, and vitamin and mineral supplementation should be monitored during weekly visits. Nutritional requirements in the NICU are usually 120 kcal per kg per day. This amount usually drops to 100 kcal per kg per day by the time of discharge. • Iron supplementation in breast-fed children or children on low iron should be started between two weeks and two months after birth, at a dosage of 2 to 4 mg per kg per day. • Infants being given a formula with a caloric content of over 24 kcal per ounce are more prone to hyperosmolar dehydration. They should be examined for signs of dehydration, and electrolyte levels should be checked if significant vomiting or diarrhea develops. Most infants do not tolerate formulas containing more than 30 kcal per ounce. (Breast milk and standard formula have about 20 kcal per ounce.) A rule of thumb is to switch to a regular formula when the infant reaches the term date.
  61. 61. • Breast milk protects against infection, and breast-fed infants have better developmental scores at 18 months of age than formula-fed infants.5 Mothers who plan to breast feed should use a hospital-quality electric breast pump after the infant's birth to stimulate their breasts. The pumped milk may be fed to the infant. When the infant is able to suckle, the mother should start breast feeding to further encourage milk production. By the time of discharge from the hospital, most premature infants require feedings at least every three hours. Human milk fortifier (a supplement that is added to pumped breast milk) should be used as advised by the NICU. • If there is a question about the mother's supply of breast milk, she should nurse every one and one half to two hours during the day in the first 24 to 48 hours after the infant's discharge to ensure adequate milk production. After this initial period, the infant is normally nursed every two to three hours, or eight to 10 feedings per day.6(p22) Six to eight wet diapers per 24 hours indicate an adequate fluid intake.7 Fluid should not be withheld for longer than four hours.
  62. 62. • If the infant refuses to nurse, the mother should try again in 30 minutes to one hour. The mother may encourage the infant to suckle by expressing drops of milk, drawing out the nipples or repositioning the infant. A supplemental nutritional system, which provides fluids through a tube while the infant is breast feeding, is useful for infants who require more calories than the amount they are receiving during regular breast feeding. A lactation consultant can help with many breast-feeding problems.
  63. 63. • Solid food should be introduced at four to six months past the infant's due date. The infant's swallowing mechanism will not acceptably handle solid food until two and one half to three and one half months past the infant's due date. Cow's milk should ideally not be started until the infant's age is 12 months past the due date. Small-for-gestational-age infants or sick infants experiencing catch-up growth should be kept on formula or breast milk until their size is within the normal range for gestational age. Sick infants, such as those with bronchopulmonary dysplasia, often require special dietary intervention. In this instance, coordination between the dietary staff and other care providers is necessary.
  64. 64. • Vitamins and Minerals Vitamins D, E and K, and folic acid are especially important for low-birth-weight infants. Except for vitamin D deficiency, vitamin deficiencies are unlikely to occur after discharge from a neonatal intensive care center.
  65. 65. Signs and Symptoms of Copper, Zinc and Vitamin D Deficiencies in Infants C o p p e r 100 µg per kg per day Up to 6 months: 0.4 to 0.6 mg daily 6 to 12 months: 0.6 to 0.7 mg daily 1 to 2 years: 0.7 to 1.0 mg daily Serum copper, serum ceruloplasmin Microcytic hypochromic anemia, neutropenia, depigmentation of skin and hair, skin lesions resembling seborrheic dermatitis, anorexia, diarrhea, psychomotor retardation, apneic spells, failure to thrive Z i n c 750 µg per kg per day 5 mg daily Plasma zinc Acrodermatitis enteropathica (dermatitis around body openings and on extremities), diarrhea, alopecia, failure to thrive, increased susceptibility to infection V i t a m i n D 400 IU daily 400 IU daily Serum vitamin D Enlarged costochondral junctions (rachitic rosary), bowlegs and knock knees, failure to thrive, hypocalcemia, hypophosphatemia Requirements in term infants Signs and symptom Requirements in preterm infantsDeficiency Test to confirm deficiency
  66. 66. • Although vitamin deficiencies are rare, all breast-fed infants should probably receive vitamin supplementation during the first year of life.8 One quart of formula or a standard dose of infant vitamins that provides 400 IU of vitamin D per day is advised for both premature and term infants. If the infant is bottle-fed with a standard formula, supplemental vitamins are advised until the infant is ingesting 32 oz of formula a day. If a special formula is used, its vitamin content should be checked to determine if supplementation is required. • Supplemental iron is advised, either as iron-fortified formula or as a liquid, given in a dosage of 2 to 4 mg per kg per day in breast-fed infants or infants receiving low-iron formulas. Iron supplementation should be started two weeks to two months after birth and continued for 12 to 15 months.9 An iron supplement in suspension form, such as Fer-in-Sol, provides 15 mg of iron per 0.6 mL.
  67. 67. • The infant should receive 0.25 mg of fluoride supplementation daily if the water in the household is not fluoridated. Many dental problems, including enamel hypoplasia, dental caries and delayed dental development, are reported to be more common in preterm infants than in term infants.10 • Although rare, deficiencies of zinc and copper have been reported in premature infants at three to six months of age.11 Zinc deficiency occurs in breast-fed infants whose mothers have a rare metabolic deficiency that prevents the secretion of zinc into their breast milk.12
  68. 68. Growth • During the first two years of life, growth is plotted using age corrected for prematurity. Growth charts for the "average" premature infant have been designed for this purpose. Special neonatal growth charts are also available for the sick or small-for-gestational-age infant.13,14 After the infant reaches two years of age, a standard growth chart for chronologic age may be used.
  69. 69. • Many premature infants have catch-up growth. Catch-up growth is usually first noted in the infant's head circumference, followed by the infant's weight and length. This usually occurs during the first two to three years of life and is maximum at 36 to 40 weeks after conception.6(p54) Little catch-up growth occurs after three years of age. Premature infants with intrauterine growth retardation and no catch-up growth have a higher risk of developmental delay and other medical problems than premature infants with a normal growth rate.15 Even in adolescence, children who were born prematurely may be smaller than children not born prematurely.16 Menarche also occurs later in girls who were born prematurely.17 One study showed that women who were born prematurely are more likely to deliver premature infants themselves.18 Another study found a trend for this to happen, but it was not statistically significant.19
  70. 70. Development • The infant's development during the first two years should be plotted from the infant's estimated due date rather than the infant's birth date. The Denver Prescreening Developmental Questionnaire, the Denver Developmental Screening Test and the Gesell Screening Inventory are all accepted tests. Using a standardized developmental test is more important than the choice of test.
  71. 71. • Developmental screening does not replace the neurologic examination. Because of this, detailed standardized examinations, such as the Neonatal Neurodevelopmental Examination, have been developed. The latter has been used primarily by developmental pediatricians and pediatric neurologists. It assesses postural reflexes and muscle tone, cranial nerve and motor function, sensory responses and behavior.20 If an abnormal finding is noted, such as neck extensor hypertonia, consultation with a developmental specialist should be considered.
  72. 72. • In an attempt to prevent disabilities, a number of intervention programs have been developed and evaluated. These include interventions in the neonatal nursery, at home and at special centers. A review21 of 19 intervention programs for low-birth-weight infants, all evaluated since 1971, found that intervention programs provide support and improve parent-child interaction. Such programs, however, have had only modest success in altering neurodevelopmental outcomes.21 Most NICUs have developmental follow-up programs, and the family physician should encourage the parents to participate in these programs.
  73. 73. Sleep • The premature infant sleeps more total hours than a term infant. Unfortunately for new parents, the premature infant also wakes up more often than the term infant; the average sleep period for a premature infant is shorter than that for a term infant.22 The premature infant may also take several days or weeks to make the transition from the more brightly lit and noisier NICU to the home environment. Soothing music and dimming the lights gradually over several days or weeks may be helpful. • The infant should sleep on his or her back because it is now well established that the prone position is associated with an increased risk of sudden infant death syndrome (SIDS).23 Soft mattresses and other surfaces that could trap exhaled air are also associated with SIDS and should be avoided.
  74. 74. Vision and Hearing • Strabismus is more common in premature infants than in term infants. Because strabismus can be a sign of intraocular pathology, ophthalmologic consultation is generally indicated in infants with strabismus. In many very- low-birth-weight infants, strabismus at six weeks of age resolves by the time the infant reaches nine months of age. Strabismus that is present at nine months of age is likely to persist. • Retinopathy of prematurity occurs in some infants born at 32 weeks of gestation or less, and evaluation for this condition will already have taken place in the NICU. The American Academy of Pediatrics, the American Association for Pediatric Ophthalmology and Strabismus, and the American Academy of Ophthalmology recommend obtaining an initial screening examination at four to six weeks' chronologic age, with follow-up examinations performed as required on the basis of the initial findings.27 • Most NICUs obtain brainstem auditory evoked potential testing before the infant's discharge. Hyponatremia, metabolic alkalosis and prolonged mechanical ventilation with high oxygen concentrations are risk factors for hearing loss. The use of an aminoglycoside or furosemide is an additional risk factor.28
  75. 75. EXCEPTIONS TO DEVELOPMENTAL MILESTONES: SIX TO NINE MONTHS • If your infant has required lengthy or frequent hospitalizations since discharge from the NICU, or your infant is still on supplemental oxygen, feeding tubes, and/or a large number of medications, she may not be able to put forth much effort to accomplish developmental milestones at this time (just like you would be unlikely to get up and learn a new dance step if you were home in bed with the flu or just recovering from surgery). If your child is still in the NICU at this time her developmental progress will definitely be affected by her health status.
  76. 76. • Infants who have had significant medical issues over the course of their short lives may also not be growing as well as expected for their corrected age. Some babies must use more effort and energy to breathe and move than healthier children, utilizing more calories despite lower overall activity. Between health issues and slow growth your child may have decreased muscle mass and display weak tone. Your baby may require a higher calorie diet or diet supplements. You should work in close consultation with your child’s primary care provider and/or a pediatric nutritionist to establish and maintain proper growth trends. This is a time when your infant needs energy to learn new skills and the brain needs appropriate nutrition to develop properly.
  77. 77. • If your child has suffered from bronchopulmonary dysplasia (BPD), reaching and sitting independently may be difficult milestones to achieve. Many children with severe BPD pull their shoulders back to expand their chest and lung capacity to its fullest. The result of using the shoulders in this way to assist with breathing is a tightening of the shoulders, called "shoulder retraction." A child who is learning to sit needs to use a position that curves the back slightly forward. At first the child needs her arms down at her sides to help keep balanced. Shoulder retractions prevent your child from achieving this position and can affect her ability to sit independently. If your child demonstrates difficulties in this area, try placing rolled diapers or blankets behind the shoulders when your child is in a car seat, highchair or infant seat. This will move her arms toward the midline, increasing the likelihood that your child will play with her hands or reach for toys. It will also help to stretch the muscles in the shoulders. In addition, when holding your child for feeding, position the arm closest to you in front of your body, as if you were going to have her hold the bottle. If this position can not be maintained for breast feeding use this position when the infant is held at other times. This has the same effect as using the rolls behind the shoulders. If you find over several weeks you are unable to begin to relax your child’s shoulders, consult with your primary care provider. A referral for a physical or occupational therapy consult may be needed.
  78. 78. • Infant "walkers" are discouraged by the American Academy of Pediatrics because of the increased risk of accidents in children who use them. For children born premature there is, in addition, the risk of the walker promoting hyperextension and stiffness of the lower extremities because propelling oneself in a walker is frequently done with the use of the toes. For children who were born early, use of a walker may increase the risk of developing hyperextension and stiffness of the legs. This can result in "toe-walking" or prevent the child from maintaining balance for independent walking. You can help avoid toe walking by not using a walker. (Some prematurely born children will walk on their toes and/or have tightness in the ankles whether they use a walker or not.) Also, floor play strengths the muscles needed for walking much better than can be accomplished upright in a walker.
  79. 79. • If your child has documented significant vision problems you will need help with providing appropriate stimulation and reading your infant’s cues. The child with significant vision problems may go through some of the outlined milestones differently. Working with a program like Georgia PINES or BEGIN will help you understand the impact of vision on developmental milestones. If your child's visual problems are severe she may qualify for the Babies Can't Wait Program.
  80. 80. • As your child’s health becomes more stable her development should progress more evenly. Once your child is eating, gaining weight, and is off oxygen or medications, you should notice a steady increase in abilities over time.
  81. 81. • EXCEPTIONS TO DEVELOPMENTAL MILESTONES: TWO TO FIVE MONTHS • If your infant came home from the NICU on supplemental oxygen, feeding tubes, and/or a large number of medications, she may not be able to put forth much effort to accomplish developmental milestones at this time (just like you would be unlikely to get up and learn a new dance step if you were home in bed with the flu or just recovering from surgery). If your child is still in the NICU at 2-5 months of age her developmental progress will definitely be affected by her health status.
  82. 82. • When a child has had early medical complications, her use of muscles for movement is likely to be affected. A baby may not have the strength to kick her legs, or repeatedly reach for an object. One way to help improve these skills is to provide extra support to facilitate movement. Placing a rolled diaper or blanket behind the shoulders or under the upper thighs can place limbs in positions so they can be more easily used. Rolls placed behind the shoulders move your infant’s arms and hands towards the middle of the body, helping maintain a position to look at a hand or swipe at a toy. Rolls placed under your infant’s upper thighs cut down the strength needed to lift and kick her legs. For some children, holding an object placed in their hands is too tiring. If the object is fastened lightly in the hand with a Velcro strip, the baby can look at the toy, bring it to her mouth or shake it without having to use much energy.
  83. 83. • Infants who have medical problems can easily get overwhelmed by social stimuli. The baby may fuss or turn away when being spoken to or when looking at an adult. The baby may be able to listen but not look, or look but not listen. Combining both looking and listening or looking, listening and eating can cause the infant to become distressed. You may need to start out doing only one thing at a time with your baby (see Increasing Social Tolerance). Watch for signs of what your baby seems to like and gradually add to and expand her skills. • If your child has a significant vision problem it is important to become involved with a program that will help you with reading your infant’s cues and in stimulating your baby. Vision is a great motivator for young infants. An infant’s facial expressions, especially the eyes, are an important avenue for parents to connect and communicate with their baby. Look to the baby’s hands to tell you what the baby is feeling. Are the hands suddenly still when you talk, indicating the baby is listening, or do they opening and closing in excitement? (Vision Impairment, Vision Resources).
  84. 84. • As your child’s health becomes more stable her development should progress. You should notice a steady increase in abilities even if it is at a slow rate. Once your child is eating, gaining weight, is off oxygen or off medications, she should gradually progress towards a level of performance you would expect for her corrected age.
  85. 85. TWO TO FIVE MONTHS • Remember to use your child’s corrected age when comparing her accomplishments to a developmental chart! If your baby went home from the hospital in generally good health and is able to feed from breast or bottle you may expect that sometime from two to five months she will begin to: • smile and coo. • watch a person’s face intently. • follow people and objects with her eyes • laugh out loud. • lift her head and chest when on her stomach. • independently hold her head steady when pulled to sit. • .grasp a rattle placed in her hand. • startle when she hears a loud sound.
  86. 86. REASONS FOR CONCERN IN FIVE MONTH OLD INFANTS • It is not generally possible to tell if a young infant’s delay(s) will be of significance to later development. However, by noting these problems early and providing appropriate services the impact of delays may be minimized, skills may be enhanced, and the level of skills may be maintained. It is important to remember that a child’s medical history can be critical in determining whether a further evaluation or therapy is needed. A particular delay in development may require a different response depending on the infant’s previous medical and developmental course. While for children who have no history of health problems, a "wait and see" approach may be appropriate for some delays, in high-risk infants developmental delays generally warrant more immediate attention. • If you notice any of the behaviors listed below, speak to your child’s primary care provider about your concerns. Your child’s primary care provider can help decide if your baby needs an evaluation by a pediatric audiologist, pediatric ophthalmologist, developmental psychologist, physical/ occupational/ speech therapists, or other specialists.
  87. 87. It may be of concern if by five months corrected age an infant: • cannot lift her head when placed on her stomach or is unable, in this position, to push up on her arms lifting head and chest. • always holds her legs in a rigid, stiff, extended position. • holds one hand tightly fisted while the leg on the same side is rigid and straight. • keeps both hands fisted and you have to pry them open. • keeps herself in the same position all the time (and if you position her differently, she manages to quickly get back to her strongly favored position). • refuses to be placed on her stomach and when placed on her back she moves by arching her back and inching backwards with the use of her head. • moves her eyes rapidly back and forth when trying to look at something straight in front of her, or does not appear to be looking at or following a person or toy, even briefly. • does not startle or respond when there are loud sounds. • does not usually become calmer or still in response to your voice. • sucks liquids from a bottle or the breast poorly (drools most of the milk down her chin, gags, chokes or spits up frequently). • generally is hungry and eager to eat, but tires quickly and does not finish her feeding.
  88. 88. SIX TO NINE MONTHS • Remember to use your child’s corrected age when comparing her accomplishments to a developmental chart! If your baby has been generally healthy since she came home from the hospital, you can expect she will: • babble and begin to combine vowel consonant sounds. For example, "dadadada." • turn to locate the source of a sound. • respond to her name. • roll over. • move from sitting with support to sitting independently. • transfer objects from hand to hand. • support her weight on her feet when held in an upright position. • use the thumb and fingers to pick up small objects (rather than using the whole hand in a raking motion). • crawl (supporting her weight on her hands and knees rather than pulling herself along in a semi-lying position).
  89. 89. REASONS FOR CONCERN IN NINE MONTH OLD INFANTS • It is not generally possible to tell if a young infant’s delay(s) will be of significance to later development. However, by noting these problems early and providing appropriate services the impact of delays may be minimized, skills may be enhanced, and the level of skills may be maintained. It is important to remember that a child’s medical history can be critical in determining whether or not a further evaluation or referral for service will be necessary. A particular delay in development may require a different response depending on the infant’s previous medical and developmental course. For children who have no history of health problems, a "wait and see" approach may be appropriate for some delays. However, developmental delays in a high-risk infant generally warrant more immediate attention. • If you notice any of the behaviors listed below speak to your child’s primary care provider about your concerns. Your child’s primary care provider can help decide if your baby needs an evaluation by a pediatric audiologist, pediatric ophthalmologist, developmental psychologist, physical/occupational/speech therapists, or other specialists.
  90. 90. It may be of concern if by nine months corrected age an infant: • cannot sit independently. • cannot bear weight on her feet when supported in a standing position. She frequently collapses at the knees or holds her feet up so they do not touch the floor. • stands up on her toes like a ballerina when supported in a standing position and cannot bring her heels down to the floor. • does not turn to locate the source of a sound and/or does not react to a sudden loud noise. • does not vocalize and has not begun holding "conversations," taking turns vocalizing with another person. • still rakes small objects into the hands with the whole fist. • cannot consistently reach out and pick up a toy on the first try. • has made no improvement towards straightening strabismus (crossed eyes) or has strabismus but is not being followed by a Pediatric Ophthalmologist. • moves herself across the floor on her belly, pulling herself forward with the strength of her arms, rather than crawling up on hands and knees. • has recently begun or increased gagging or choking with bottle or breast feeding.
  91. 91. TEN TO TWELVE MONTHS • Remember to use your child’s corrected age when comparing her accomplishments to a developmental chart! If your baby has been generally healthy since discharge from the hospital you can expect she will: • carry out a simple action on verbal request. For example, wave "bye" when she hears the word. She no longer has to see someone wave first. • purposefully say "mama" and/or "dada" as a greeting or to call a parent to her. • play with an object with both hands while sitting independently. • independently move herself across the floor to get a desired object. • pull to stand and cruise holding onto furniture or an adult’s hand. • pick up small objects with thumb and fingers. • try to communicate by pointing or reaching for what she wants. • turn the pages of a board or thick plastic book. • visually and manually explore toys, revealing a growing curiosity. • indicate recognition of familiar people by facial expression or by physically approaching the familiar person. • use both hands equally well.
  92. 92. REASONS FOR CONCERN IN TWELVE MONTH OLD INFANTS • At this age, it is not generally possible to to determine how much significance an infant’s delay(s) will have for later development. However, by noting problems early and providing appropriate services, the impact of delays may be minimized, skills may be enhanced, and the level of skills may be maintained. It is important to remember that an infant’s medical history can be critical in determining whether or not a further evaluation or referral for service is necessary. A particular delay in development may require different responses depending on the infant’s previous medical and developmental course. For children who have no history of health problems, a "wait and see" approach may be appropriate for some delays. However, developmental delays in high-risk infants generally warrant more immediate attention. • If you notice any of the behaviors listed below, speak to your child’s primary care provider about your concerns. Your child’s primary care provider can help decide if your baby needs an evaluation by a pediatric audiologist, pediatric ophthalmologist, developmental psychologist, physical/occupational/speech therapists, or other specialists.
  93. 93. It may be of concern if by 12 months corrected age she: • does not look at people when they talk to her. • does not attempt to communicate, does not point or reach to indicate what she wants. • does not turn to sounds nor respond to simple familiar words, such as "no" or "bye." • is not sitting independently. • is not able to move freely about a room, whether by crawling, creeping, or rolling. • stands up on her toes in an upright position, rarely able to bring her heels flat on the floor. • only uses one side of the body; when sitting leans heavily to one side, locomotes using only one side of the body, or always reaches and manipulates toys with one arm and hand. • looks at a toy or a book bringing the object very close to her eyes. • rakes small objects into the hand with the whole fist rather than using fingers or has difficulty picking up small objects. • still always reaches with both hands together, never using each hand independently for reaching. • cannot hold an object in each hand simultaneously. • does not transfer objects from one hand to the other.
  94. 94. Preschool Development 1: Communicative and Motor Aspects • Raymond A. Sturner, MD* and Barbara J. Howard, MD† • IMPORTANT POINTS • 1. It currently is recommended that the development of children be monitored during health supervision visits by the process of developmental surveillance. • 2. Language abilities develop rapidly during the preschool years, are important indicators of developmental progress, and are critical to further learning and behavioral development. • 3. Developmental monitoring not only should be aimed at identifying children who have low function, but at directing the focus of anticipatory guidance to help promote normal development. • 4. Direct interviewing of the preschool child, such as through the "drawing interview," can provide information about the child's developmental and emotional status, establish rapport, and serve as a model for parents. • 5. When reviewing the child's development, the parent's reaction to the child's course of development may be as important as the child's developmental status
  95. 95. Introduction • Preschool children are very special to pediatricians. We have the opportunity to observe the baby become a person with his or her own dynamic personality, complex abilities, and enlarging relationships. However, pediatricians generally only schedule annual visits with healthy preschool-aged patients to monitor health and development and to provide guidance to parents. Given the developmental richness of children from 2 to 5 years of age and the enormous transformations occurring from one birthday to the next, the best way for such health supervision visits to be of maximal use in monitoring development is if the parent, who knows the child intimately, provides relevant information. The pediatrician then can address parental concerns and elicit information likely to reveal the strengths and weaknesses that should be addressed. In this article, we will provide information about normal developmental milestones of pre-schoolers organized to facilitate developmental surveillance during health supervision visits.
  96. 96. • The rationale for developmental monitoring by child health clinicians appears to be shifting with advances in research and technology as well as new public awareness and support. Traditionally, developmental monitoring was advocated to detect treatable diseases that had developmental manifestations, such as phenylketonuria, hypothyroidism, or deafness. With increasing batteries of metabolic and electrophysiologic neonatal screening tests available, this rationale seems less compelling. Recently, public demand has led to laws in the United States and elsewhere that mandate identification and intervention for infants and young children who have developmental deviations and even for those only "at risk" without cost to families. Failure to attempt to identify these children no longer can be rationalized by the lack of available intervention services.