Development and Autism Flashcards
M-CHAT
- Modified Checklist for Autism in Toddlers
- Clinical tool for evaluating for autism in toddlers for early detection
- Simple and easy to administer, but unfortunately a high false-negative rate
- However, the test is highly specific
- Overall, the PPV is only ~18%
Screening for autism should be performed at least ____.
Screening for autism should be performed at least twice, during the 18-month and 24-month visits
Median age of autism diagnosis
~4 years
Developmental surveillence
Skilled observations made by a pediatrician of a child and their family that takes into account parental concerns and the child’s developmental history
Ideally performed by every physician at every visit
Developmental screening
Standardized, objective measures given to parents to assess development relative to certain discrete time windows.
Recommended at 9, 18, and 24 months.
Developmental categories
- Language
- Social
- Emotional
- Motor
- Cognitive
Newborn - 1 month milestones
- Responds to visual and auditory stimuli
- Sucks in a coordinated fashion
- Fixes vision briefly on faces and objects
- Cries to make needs known
2 month milestones
- Lifts head when prone
- Social smile
- Can track horizontally with gaze
- Stay alert for longer periods of time
4 month milestones
- Can roll from front to back (Fencer reflex vanishes)
- Uses sounds to communicate
- Laughs
- Orients to a parent’s voice
- Can bring hands to midline
- Grasping reflex
Why are falls more of a risk past ~4 months?
Because the Fencer reflex has disappeared!
Parents should be advised not to leave children unattended on a bed or couch at the 4 month visit.
6 month milestones
- Sits with minimal support
- Begins babbling with consonants
- Reaches for caregivers and toys
- Transfers toys from one hand to the other
- All primitive reflexes should be gone
Primitive reflexes
- Moro
- Fencer
- Fisting (fists closed at rest)
Should all disappear by 6 months. If they do not, this is a red flag for development.
9 month milestones
- Pulls to stand and cruise
- Says “mama” or “dada” nonspecifically
- Immature pincer grasp and desire to grasp and explore items
- Turns pages in board book
- Object permanence is observable
- Separation anxiety
When is it a good time to discuss choking risks?
The 9 month visit, as this is when toddlers are walking around, grabbing at things, and trying to put them in their mouth
12 month milestones
- Mama and Dada are applied correctly
- One word other than mama and dada
- Points
- paired with eye contact
- Demonstrates joint attention and body communication
- First steps
- More developed pincer grasps
- Follows simple gestural commands
Hand preference
Before age 1, hand preference is a red flag, as it may demonstrate decreased tone on one side.
Minimal response to name
By 1 year, an infant should be able to respond to their own name.
An inability to do so may be a clue to an underlying disorder.
15 month milestones
- 3-6 word vocabular
- Points both to show needs and to show interest
- Can feed self with spoon and cup (although may be sloppy)
- Stoops and recovers while walking
- Scribbles
Tantrums
A good time to discuss these with parents is at the 15 month visit, as this is around when they will begin.
18 month milestones
- 5-10 words
- Lots of jargoning
- Can point to 1 body part by name
- Imitates those nearby
- Stacking 3 blocks
- Starting to run
Red flags at 18 months
- Doesn’t point to show things to others
- Can’t walk
- Doesn’t imitate
- Not gaining new words
- Not noticing when caregiver leaves or returns
24 month milestones
- 2 word phrases begin
- 50 word vocabulary (though only 50% may be intelligible)
- Can foillow 2-step commands
- Goes down stairs 2 feet at a time while holding onto a railing
- Can feed self with spoon and fork
- Can jump 2 feet off the floor
- Enjoys parallel play
- Can turn thin pages
- Can draw lines
- Can stack 6 blocks
3 year milestones
- Can go up or down stairs with alternating feet and/or peddle a tricycle
- Draws circles
- Can stack 9 blocks
- Uses pronouns correctly
- 3 word sentences, ~75% understandable
- Can put on shoes, dress self, and brush teeth with help
- Knows name, age, and can identify colors
- Interactive, imaginative group play
- Toilet-trained during the day
4 year milestones
- Can draw four-sided square or cross
- Can hop on one foot
- Can manipulate buttons
- Language 100% understood
- Answers “what?” and “when?” questions
- Can play cooperative group play that follows rules
- Knows at least 4 colors
5 year milestones
- Can skip
- Can tie shoes
- Can draw a triangle
- Can print first name
- Draws a person with a head and body parts
- Knows left from right
- Asks lots of “what?” and “why?” questions
- Follows 3 step commands
- Knows address, birthday, and phone number
- Can name the alphabet and count to 10
Components of pediatric neurologic exam
- Head circumference
- Fundoscopic exam
-
Cranial nerves
- Hearing: Ring bell one both sides, + if infant looks
- Occulomotor: Dangle object, infant follows with eyes
- Pupillary reflexes
- Facial nerve: Sucking on binky
-
Motor Exam
- Examine tone of muscles in extremities by palpation
- Power: Resistance to slight pull, weight on legs
-
Primitive reflexes
- Moro by sitting baby up, then swiftly but gently lowering their back
- Fencer
- Babinski
- Grasp (palmar/plantar)
- Spinal reflexes
-
Sensory exam
- Tickling
Arm traction maneuver
For evaluating upper extremity tone in an infant
Extend the arm gently just to the point that the shoulder is off the floor. Arm should have significant flexion, approaching 90 degrees, in normal tone. Dystonic arms may extend fully to 180 degrees or approximate this.
Arm recoil maneuver
Flex the baby’s arms against their chest for ~5 seconds. Then, swiftly but gently extend them.
An infant with good tone should recoil and flex their arms back toward the midline.
Resting tone of an infant with good tone
Flexion of both upper and lower extremities, with elevation of hands and feet off of the mat.
As a rule of thumb, knee or elbow extension with full extension in the upper and lower extremity traction maneuvers should be less than ___.
As a rule of thumb, knee or elbow extension with full extension in the upper and lower extremity traction maneuvers should be less than 100 degrees
Ventral suspension
Tests for both axial and extremity tone. Infants with healthy tone will keep their abdomen and thorax straight and will raise and flex both extremities.
Head lag
When lifting baby up gently by the arms, the neck muscles should be able to pull the head up with the torso to keep the head staring ahead. Infants with poor tone cannot lift their head up off the mat in this position.
While weak infants are always ____, hypotonia is often present with ____
While weak infants are always hypotonic, hypotonia is often present with normal strength
Hypotonia may be caused by. . .
. . . disorders that affect any level of the nervous system – brain, brain stem, spinal cord, peripheral nerves, neuromuscular junction and muscle
Historical factors that increase the prior probability of CNS dysfunction as a cause of infantile hypotonia
Preterm delivery; toxoplasmosis, other infections, rubella, cytomegalovirus infection and herpes simplex; neonatal seizures; drug and alcohol use; or other pre- or postnatal insult
___ should be suspected in an infant with a normal pregnancy and delivery and the development of hypotonia after the first day or two of life.
Inborn errors of metabolism should be suspected in an infant with a normal pregnancy and delivery and the development of hypotonia after the first day or two of life.
Motor delay with normal social and language development decreases the likelihood of ___
Motor delay with normal social and language development decreases the likelihood of brain pathology.
___ in the context of intantile hypotonia increases the index of suspicion for neurodegenerative disorders
Loss of milestones in the context of intantile hypotonia increases the index of suspicion for neurodegenerative disorders
History of honey or corn syrup consumption in infantile hypotonia
- Suggests the possibility of infantile botulism
- Contamination of these products with Clostridium botulism may account for up to 20% of botulism cases during infancy
Dietary/feeding history in workup of infantile hypotonia
A dietary/feeding history may point to diseases of the neuromuscular junction, which may present with sucking and swallowing difficulties that ‘fatigue’ or ‘get worse’ with repetition.
While strength may be measured in adults and older children using a standardized five-point scale, ___ may provide more helpful information in infants
While strength may be measured in adults and older children using a standardized five-point scale, the ability to point, reach and lift may provide more helpful information in infants
Anterior horn cell disease vs neuromuscular junction disease on physical exam
Anterior horn cell disease usually spares extraocular muscles, while diseases of the neuromuscular junction may be characterized by ptosis and extraocular muscle weakness
Information that may be gained from an infant’s cry
Attention to the quality of the cry is important because a high-pitched or unusual-sounding cry suggests CNS pathology, a weak cry may reflect diaphragmatic weakness, and a fatigable cry may suggest a congenital myasthenic syndrome.
Liver assessment in infantile hypotonia
Hepatosplenomegaly suggests a lysosomal or glycogen storage disease
Cardiac assessment in infantile hypotonia
In the presence of hypotonia, signs of cardiac failure suggest muscle or mitochondrial disease
Clinical pearls for infantile myotonic dystrophy
- Examine the parents too!!!
- Although myotonic dystrophy is inherited as an autosomal dominant disorder, when a newborn inherits the gene and shows the striking weakness and bulbar difficulties of congenital myotonia, the mother, not the father, is nearly always affected
Screening for ___ should be performed in all infants for whom an etiology of hypotonia is not clear
Screening for hypothyroidism should be performed in all infants for whom an etiology of hypotonia is not clear
Use of creatine phosphokinase (CPK) as a marker of muscle disease
- Congenital myopathies are associated with a normal CPK level.
- Anterior horn cell disease may be associated with mild increases
- A significant increase in CPK suggests a form of congenital muscular dystrophy.
SMA disease
- A group of genetic diseases characterized by a progressive loss of spinal anterior horn cells
- Second most common hereditary neuromuscular disease
-
Most autosomal recessive, but some X-linked or autosomal dominant
- Most common form is gene defect localized to the motor neuron survival gene (SMN gene) on chromosome 5q
- Children with SMA type 1 are most frequently perceived by parents to be normal during the first months of life, with subsequent development of dramatic hypotonia, proximal muscle weakness and absent deep tendon reflexes.
Autism spectrum disorder
A biologically based neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities.
<6 months signs of autism
Decreased visual fixation (as measured by eye-tracking technology); this difference is not apparent to the naked eye, so parents of young infants should not be concerned if the infant does not always meet their eyes
6 to 12 months signs of autism
Reduced response to name, gaze to faces, shared smiles, and vocalizations to others and a tendency to fixate on particular objects in the environment
12 to 24 months signs of autism
Reduced frequency of sharing experiences, interests, or attention with others; repetitive behaviors; delayed expressive and receptive language; and problems with eye contact, orienting to name, pretend play, imitation, and nonverbal (eg, gestural) and verbal communication
Early red flags in ASD
Children who screen positive for ASD should undergo ___
Children who screen positive for ASD should undergo a hearing screen and blood lead level
Next steps for suspected autism
A patient with suspected autism tests positive for blood lead. What are the next steps?
Eliminate lead from the environment, AND. . . continue to work up for autism.
Autism can be associated with pika, which might have caused the lead poisoning in the first place.
Genetic testing in autism
- Karyotype
- Fragile X screening
