Peds Case 28- 18M/o W Developmental Delay

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corrected age should be discontinued after the child reaches 2 years, because most premature infants have caught up by then, especially in terms of height. Some still lag behind their same-age peers in weight..

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that is all

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95% of typically developing children start walking between

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9 and 17 months of age
gait is typically wide-based, with a waddling gait and intermittent toe walking. With time the gait will narrow, arms will come down and reciprocal arm movements will be added. The waddling at the hip will decrease, and the knees and ankles will move more. By 3 years of age a heel strike will be present and the gait will begin to approximate an adult's.

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"pigeon-toed"

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Internal tibial torsion is very common in childhood and typically resolves with growth. The process of correction may take several years. Children may be more or less affected by the degree of in-toeing. In the past, children wore braces to correct this torsion. Bracing does not improve outcome and is no longer used.

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flat feet

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Flat feet are common in children. The pedal arch develops in the first 8 years of life. The most important part of the physical examination is to determine whether the foot and ankle are flexible. If the foot has full range of motion, the child can be monitored. If there is decreased flexibility, other conditions should be considered

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NO WALKERS

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risk for injury from falls, burns, and other accidents related to increased mobility.
don't help with walking

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monitor for development

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• Gross motor
• Fine motor
• Communication (sometimes broken down into receptive and expressive language)
• Personal-social
• Problem-solving (called Self-help or Adaptive in some frameworks)

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language assessment

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most of our "tools" examine expressive language, receptive language may be a better indicator of long-term language outcome. In the office setting, you may have difficulty directly assessing expressive language (toddlers become shy), so parental report is an important tool

language delay raises the possibility of autism

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milestones of speech development

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Before 7 days of age, an infant can distinguish her mother's voice from another woman's voice.

Before 2 weeks of age, an infant can distinguish her father's voice from another man's voice.

At 6-8 months, the infant has added a few consonant sounds to the vowel sounds, and may say "mama" or "dada" but does not attach them to individuals.

At a year, the infant will attach "mama" or "dada" to the right person. The infant can respond to one-step commands such as "Give it to me."

At 15 months, the toddler continues to string vowel and consonant sounds together (gibberish), but may imbed real words. The infant may say as many as 10 different words.

At 18 months, a toddler can say nouns (ball, cup), names of special people, and a few action words or phrases. The toddler adds gestures to her speech, and may be able to follow a two-step command.

At 2 years, the toddler can combine words, forming simple sentences like "Daddy go."

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ages for developmental screening

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9, 18 and 30 months

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screening tests for development

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Parents’ Evaluation of Developmental Status (PEDS):
0-8 years;
elicits parents’ concerns as a basis for identifying problems
Sensitivity 74-79%; specificity 70-80%.

Ages and Stages Questionnaire (ASQ):
0-4yrs ;
clear drawings and simple instructions.
Sensitivity 70-90% and specificity 76-91%.

Bayley Infant Neurodevelopmental Screener (BINS):
3mos-2yrs;
directly examines items in a variety of domains (not by parent report).

Child Development Inventories:
3mos-6yrs;
3 separate instruments with yes/no questions; parents can also fill out independently.
excellent sensitivity for detecting children with difficulties (>75%) and 70% specificity for correctly identifying children who are developing normally.

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Autism

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developmental disorder that primarily interferes with healthy social interaction. The overall prevalence is 6 per 1000 or 0.6 %.

mean age of 1st eval 48mos, well after symptoms of the disorder present. This results in delayed therapeutic intervention, which tends to be more effective with earlier initiation.

recommends routine screening for autism in all children at the 18 and 24-month visits

Modified Checklist for Autism in Toddlers (M-CHAT).
16-30mos

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dx for autism (criteria)

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A total of six (or more), at least two from (1), and one each from (2) and (3):

(1) qualitative impairment in social interaction (at least two):
(a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
(b) failure to develop peer relationships appropriate to developmental level
(c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest)
(d) lack of social or emotional reciprocity


(2) qualitative impairments in communication (at least one):
(a) delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
(b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
(c) stereotyped and repetitive use of language or idiosyncratic language
(d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level


(3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, (at least one):
(a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
(b) apparently inflexible adherence to specific, nonfunctional routines or rituals
(c) stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole-body movements)
(d) persistent preoccupation with parts of objects

B. Delays or abnormal functioning in at least one of the following areas, with onset before 3 years old: (1) social interaction, (2) language as used in social
communication, or (3) symbolic or imaginative play.

C. The disturbance is not better accounted for by Rett’s Disorder or childhood disintegrative disorder.

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problems of premies that can cause developmental delay

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Chronic lung disease or bronchopulmonary dysplasia (BPD) may cause poor growth b/c increased caloric requirements, repeated pulmonary infections or CHF. or prolonged or repeated hospitalization due to illness,

All premature esp < 1500g at risk for Retinopathy of Prematurity (ROP). (50% weighing less than 1200g)
extraretinal fibrovascular proliferation and in severe cases may cause retinal detachment and blindness.

Bilirubin is neurotoxin, esp preterm or critically ill= kernicterus-> abnml motor development (choreoathetoid cerebral palsy) and sensorineural hearing loss. Ladvances in preventive mgmt makes kernicterus rare.

Periventricular leukomalacia (PVL) damage to the white matter surrounding the ventricles in the brain as a result of hypoxia, ischemia and inflammation
correlated with intraventricular hemorrhage (IVH)- bleeding from delicate vessels of the neuronal and glial proliferation zone (the germinal matrix) that surrounds lateral ventricles in preterm and fetuses. damage to the white matter more widespread, but not easily visualized using imaging. PVL with cysts (cystic PVL) is highly correlated with cerebral palsy.

Gastroesophageal reflux (GER): Almost all infants have some degree of GER. Premature infants have a higher incidence due to a physiologic incompetent lower esophageal sphincter. Esophagitis or failure to retain sufficient calories due to vomiting can negatively impact growth. Development usually is not affected, although infants with esophagitis may be more irritable, which in rare cases negatively affects parent-infant interactions.

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stress and development

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temper tantrums, sleep disturbances and refusal to eat are common adaptations. Language acquisition may be slowed during periods of stress. During hospitalization (an extreme form of stress) children may develop increased dependency, enuresis or encopresis. If a child has recently gained motor milestones and is ill, the achievements may be temporarily lost

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not on ddx

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autism and myopathy are unlikely, as autism does not cause motor delay, and a myopathy would not affect language development.

Neurodegenerative disorders usually cause regression of milestones, as do psychosocial causes of motor and speech delay.

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cerebral palsy

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non-progressive motor delay and abnormal findings on neurologic exam

non-progressive disorders, characterized by motor and postural dysfunction. These conditions, which range in severity, are due to abnormalities of the developing brain resulting from a variety of causes

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head circumference is measured

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across widest largest part of head

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Babinsky sign

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problem in CNS lesion in the corticospinal tract
testing L5 S1

infants, because their CNS is not yet mature, a Babinski response is NORMAL! It may occasionally persist until 2 years of age in some children, but usually is absent by the time the child is walking. Persistence beyond 2 years of age is abnormal and may be an indicator of neurological abnormality.

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ex-29-week preemie who has delayed acquisition of developmental milestones and hypertonia and spasticity on exam?”

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cerebral palsy

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types of cerebral palsy

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bilingual childres

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appear to have temporary delays in expressive language. Children will mix words and syntax from the languages they hear spoken, but by age two, they begin sorting them out. Exposure to multiple languages early in development probably facilitates language acquisition later in life.

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APGAR and development

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The APGAR score was developed as a measure of the transition state from uterine to extra-uterine life. (For more about the APGAR score and how it is performed, see CLIPP case 1.)

Recent studies have reconfirmed that APGARs cannot be used to predict infant developmental outcome but continue to be a useful tool in predicting neonatal survival.

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risk factors for cerebral palsy

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1. Perinatal asphyxia (10%)*
2. Intrauterine infection (28%)
3. Prematurity (78%)
4. Intrauterine growth retardation (34%)

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important to classify the type of CP.
tests:

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Screening for developmental delays, ophthalmologic abnormalities, hearing impairment, speech and language disorders, and disorders of oral-motor function are warranted as part of the initial assessment

EEG- epilepsy.
Neuroimaging- establish an etiology and for prognostic MRI is preferred.
Metabolic and genetic testing are considered if the clinical history or findings on neuroimaging do not determine a specific structural abnormality or if there are additional and atypical features in the history or clinical examination.

The in-depth developmental assessment typically cannot be done in a busy outpatient clinic. Referral to a specialist will help with this testing and with coordinating services for the child. Federally funded Early Intervention Programs are required to provide timely evaluations and interventions for infants and toddlers at risk for developmental problems.

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More testing

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1. Testing for chromosomal abnormalities: mental retardation. Or clues:
1) Hypotonia, prominent epicanthal folds, Brushfield spots (gray yellow spots on periphery of iris), small ears, small nose and loose nuchal skin (Trisomy 21 or Down syndrome);

2) Females with proportionate short stature and primary amenorrhea (Turner syndrome);

3) Males with small testes and gynecomastia (XXY or Klinefelter syndrome);

4) Males with macroorchidism, usually after puberty (Fragile X syndrome).

2. Inborn errors of metabolism: may present with lethargy and hypothermia (you must also consider sepsis). Older children may present with lethargy, vomiting and coma, developmental regression or chronic vomiting.
phenylketonuria, are not usually associated with metabolic exacerbations and can remain clinically undetected until some degree of CNS damage has occurred= screened for.
family history may uncover children with similar presentations or early unexplained infant deaths.
Some experts recommend quantitative amino-acid testing on urine and plasma in children with mental retardation and no specific physical findings.

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mental retardation

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3 components:
onset before 18 years
some degree of cognitive impairment
some degree of impaired adaptive behavior.
validly acquired IQ measure more than 2 standard deviations below the population mean
3% of the population has an IQ of less than 70.
IQ delineates cognitive delay, but mental retardation is more complex than a single number.
Other conditions, such as visual deficits or chronic illness affect measurement of IQ as well. An assessment of adaptive behavior will also guide appropriate therapy.

all children with cerebral palsy do not have mental retardation.
Specific assessment of cognitive function is the cornerstone for making the diagnosis of mental retardation.
"intellectual disability" replace the term "mental retardation," due to the stigma

Syndromes commonly associated with mental retardation include Down syndrome, fetal alcohol syndrome and Fragile X syndrome.

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Fragile Syndrome X

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Mental retardation is more common in males than females due to X-linked mental retardation syndromes.

most common of these is Fragile X syndrome.
1/4,000 to 1/6,000 males,
helpful finding is macroorchidism, documented after puberty. difficult diagnosis to make in earlier childhood.

Behavioral disturbances, such as hyperactivity, gaze avoidance, or autistic behavior have been described. It is generally accepted that males with mental retardation be referred for evaluation of Fragile X syndrome.

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challenges for CP

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challenges related to muscle control, including difficulties with mobility, speech production and self-care. In addition, CP is often associated with other impairments such as learning disabilities, sensory impairments and seizures. Individuals with CP often require medical, educational and social support to successfully function within society.