Pediatric Primary Care Case Studies (6 page)

•   Developmental history:

   At what ages were milestones met: fine motor, gross motor, language, cognitive, and social skills

•   Functional health history:

   Feeding history: breastmilk or formula; introduction of solids; difficulties with eating or drinking; problems with choking, gagging, coughing, or swallowing while eating or drinking

•   Any frequent bouts of upper respiratory infections, pneumonias, or chronic upper airway congestion, which could indicate possible penetration and/or aspiration and feeding dysfunction

•   Elimination: any problems with urination (retention), having an adequate number of wet diapers, frequency of stooling, problems with constipation

•   Sleep: nighttime arousals, snoring, number and length of daytime naps

•   Daycare attendance

•   Activities the child enjoys

The mother responds that she had limited access to prenatal care. She denies use of alcohol, cigarettes, or drugs. The pregnancy progressed normally with the exception of onset of premature labor and rupture of membranes. Maya spent 2 months in the NICU. Since discharge Maya has not had any hospitalizations, surgeries, or injuries. Maya is frequently congested and easily becomes ill with respiratory infections. The family history of diseases is unremarkable.

The infant is not currently taking any medications. She is behind in her immunizations because Maya has not received her 6-month series. She previously received immunizations at a local health department but medical care has been sporadic because the family moved shortly after Maya came home from the NICU. The family has limited resources
and has been unable to locate a primary care physician. Interim care has been obtained at multiple urgent visit clinics or emergency departments.

The mother gives Maya baby formula (20 cal/oz) and offers baby food two to three times daily. She believes that Maya doesn’t like the baby food because she frequently pushes it out with her tongue. Maya is difficult to feed because she frequently coughs while eating and/or drinking and drools a lot. As for elimination, the mother reports five wet diapers per day with a bowel movement consisting of balls of stool every other day. Maya’s sleep has improved although she continues to wake during the night, crying and arching her back. The mother notes that her legs become stiff.

Developmentally, Maya has a social smile, makes a few vocalizations, and enjoys being held. She is able to pick up small objects with her hands but does not transfer them. The mother feels she makes good eye contact and tracks objects. Her motor and oromotor skills were described earlier.

Maya is cared for by her mother or grandparents during the day. The mother has a few neighbors with children of similar ages but does not share babysitting time or interact socially with them.

What parts of the physical examination will be particularly important for this child?

Physical examination
. Upon physical examination, you find a thin, normocephalic female infant in no acute distress. Corrected gestational age is noted to be 6 months and 1 week old. Length is between the third and fifth percentile with weight below the third percentile. Ophthalmoscopic examination reveals strabismus. Examination of the oropharynx reveals an intact palate with a positive gag reflex. Drooling is evident. The abdomen is rounded and palpation reveals stool. You focus special attention on the neurological examination. Muscle tone is greater in the lower extremities than the upper extremities, with clonus at the ankles. At times she exhibits hyperextension and adduction (scissoring) of the lower extremities. Deep tendon reflexes are brisk. She exhibits head lag when pulled from sitting and has poor trunk control. Primitive reflexes (asymmetric tonic neck reflex and Moro reflex) are present. The remainder of the physical examination is within normal limits.

Does Maya have developmental delays for a 6-month corrected age infant? If so, in what areas?

Considering the milestones for normal children at 6 months of age, Maya has not achieved full head control (4-month skill), rolling (5-month skill), or sitting propped (6-month skill). She also has significant oro-motor problems with her choking, drooling, and tongue thrusting. Although she has some beginning fine motor skills with picking up objects, she is not yet transferring them hand to mouth (5-month skill). Her decreased trunk tone and increased lower extremity tone with ankle clonus are also worrisome observations. The presence of
asymmetric tonic neck and Moro reflexes, which should all have been assimilated into more mature movements by 4 to 6 months, is also abnormal.

Are there some laboratory or radiological studies that would be helpful to you at this point in your decision making?

Diagnostic Studies

Based on the above history and physical examination, further diagnostic studies are warranted. Maya has problems with feeding, constipation, gross motor skills, and strabismus. Laboratory tests including a complete blood count (rule out infection, anemia), complete metabolic panel (evaluate electrolytes, nutritional status), thyroid-stimulating hormone (thyroid disorder), and lead level (high levels can cause developmental delay) would provide a quick clinical snapshot.

An abdominal X-ray would evaluate stool burden because chronic constipation can cause diminished desire to eat. If there is suspicion of aspiration, the child should be referred for a modified barium swallow or video swallow. Decreased oral motor skills, resulting in prolonged feeding time and ineffective swallowing patterns leading to aspiration, are common and lead to malnutrition or inadequate growth (Wilson Jones, Morgan, & Shelton, 2007).

Due to the abnormal neurologic examination, a computed tomography (CAT scan) or magnetic resonance imaging (MRI) would be indicated to rule out brain damage. In addition, the finding of strabismus would indicate a need for referral to an ophthalmologist. Chromosomal and other genetic studies may be obtained later if needed.

Making the Diagnosis

The neurodevelopmental examination, history and physical, and the child’s developmental profile should be combined to formulate a neurodevelopmental diagnosis. Maya’s history and physical examination findings are consistent with an upper motor neuron lesion, such as in cerebral palsy. Indications of an upper motor neuron lesion include increased tone, muscle weakness, exaggerated reflexes, and continued primitive reflexes. Atrophy and fasciculations are indicative of a lower motor neuron lesion, although mild atrophy may develop in children with upper motor neuron lesions due to disuse of muscles.

Social isolation and limited economic resources are other factors to consider in providing this family with care.

Cerebral Palsy Information

Pathophysiology

Cerebral palsy (CP) is an umbrella term encompassing a group of
nonprogressive
disorders of posture and movement caused by a defect or insult to the central
nervous system (Wilson Jones, Morgan, Shelton, & Thorogood, 2007). In premature infants (< 32 weeks or < 2,500 g), the most likely cause of CP is injury to the periventricular white matter of the brain, which results in intraventricular hemorrhage or periventricular leukomalacia. The motor tracts in the developing brain of a premature infant between 24 and 32 weeks gestation are vulnerable to injury. Postnatal risk factors associated with cerebral palsy include asphyxia, seizures (within 48 hours of birth), cerebral infarction, hyperbilirubinemia, sepsis, respiratory distress syndrome/chronic lung disease, meningitis, postnatal steroids, intraventricular hemorrhage, periventricular leukomalacia, shaken baby syndrome, and head injury (Wilson Jones et al., 2007).

Some infants are born with CP whereas others acquire it after they are born. Early signs of CP usually appear before 3 months of age. On average, a child with cerebral palsy is not diagnosed until approximately 12 months of age or later. Identifying the predominant motor characteristics is one method of classifying CP. Motor characteristics include the following: spastic, hypotonic, athetotic, dystonic, and/or ataxic movements. In addition, it is important to describe the pattern of limb involvement including monoplegia, diplegia, triplegia, hemiplegia, or quadriplegia (Wilson Jones, Morgan, Shelton, & Thorogood, 2007).

When making the diagnosis, the healthcare provider must be cautious of the child who is
losing
developmental milestones, because this may indicate a degenerative process (spinal muscular atrophy or mitochondrial myopathy) and not CP. A diagnosis of CP is often easier if there is known brain damage, which is documented by CAT scan or MRI. Although CAT scans identify brain malformations, structures and abnormalities that are closer to bony structures can be visualized more clearly with an MRI (Blosser & Reider-Demer, 2009). If a metabolic syndrome or genetic disorder is suspected, high resolution chromosomes or biochemical studies would be needed. Therefore, a referral to a developmental pediatrician for a definitive diagnosis is indicated.