How Do You Diagnose Cerebral Palsy?

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Patient Presentation
A 6-month-old corrected age female came to clinic for her health supervision visit. She had been born 6 weeks premature and was born to a mother with a history of multiple miscarriages and thyroid disease. She was small for gestational age, had some respiratory distress at birth that required oxygen for 24 hours, received antibiotics for prolonged rupture of membranes and had early jaundice that required phototherapy. She had been noted at 2 months of age to have general hypotonia and started receiving physical therapy. Her mother said that she had been improving, but now was becoming more “stiff,” in her extremities. She had just seen the neonatologist as part of their followup program and had been diagnosed with cerebral palsy. Developmentally her mother reported that she was on track for her language, and interpersonal and social skills.

The pertinent physical exam showed a smiling infant with normal vital signs who was 5-10% on her growth curves and tracking. Her physical examination had increased tone in all extremities but her trunk was still somewhat hypotonic. Deep tendon reflexes were also increased.

The diagnosis of a healthy former preterm infant with cerebral palsy who was already receiving services was made. The pediatrician asked if the parent had any questions about the cerebral palsy diagnosis and the mother said that she had thought she had a problem, but the neonatologist had confirmed it. “I’m happy that she is continuing to progress and the physical therapist thinks she will do very well. We’ll just have to see with time. I’m grateful that we started her therapy early,” the mother said.

Discussion
Cerebral palsy (CP) is defined as “…a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain.” It is the most common physical disability in childhood. It occurs in 1:500 live births, with a prevalence as high as 2.1 case/ 1000 persons. Most patients are born full term.

There are 4 CP types:

  • Spastic
    • Occurs in 85-91%
    • May occur in one or more limbs
    • Unilateral (hemiplegia, 38%), bilateral (diplegia, 37% with lower limbs affected more than upper extremities), and quadriplegia (24%)
  • Dyskinetic
    • Occurs in 4-7%
    • All limbs affected
  • Ataxic
    • Occurs in 4-6%
    • All limbs affected
  • Hypotonic
    • Occurs in 2%
    • All limbs affected

Common co-morbities include:

  • Chronic pain (75%)
  • Intellectual disability (49%)
  • Epilepsy (35%)
  • Orthopaedic problems – especially hip dislocations (28%)
  • Behavior problems (26%)
  • Incontinence (~24%)
  • Sleep problems (23%)
  • Sialorrhea (~20%)
  • Blindness, functional (11%)
  • Feed problems (~7%)
  • Hearing impairment (4%)

In many CP cases, the cause is not clearly defined but probably is multifactorial with important risk factors. Most patients have prenatal or perinatal risk factors and only 8% have post-natal risk factors. Risk factors can include:

  • Preconception
    • History of stillbirth, miscarriages
    • Multiple birth
    • Low socioeconomic status
    • Assisted reproduction
  • Pregnancy
    • Birth defects
    • Infection
    • Intrauterine growth retardation
    • Fetus is male gender
    • Maternal specific problems
      • Coagulation disorders
      • Thyroid disease
      • Seizures
      • Substance abuse
    • Multiple gestation
    • Preeclampsia
    • Prematurity
  • Perinatal
    • Acute intrapartum hypoxia-ischemia
    • Hypoglycemia
    • Infection
    • Hydramnios – poly- or oligo-
    • Jaundice
    • Labor issues
      • Breech presentation
      • Cesarean delivery
      • Cord problems – prolapse, nuchal
      • Labor length
      • Prolonged rupture of membranes
      • Meconium-stained amniotic fluid
      • Placental abruption
      • Uterine rupture
    • Placental abnormalities
    • Seizures
    • Size – small or large for gestational age
  • Neonatal period
    • Infection
    • Trauma, accidental and non-accidental
    • Respiratory distress
    • Surgical complications
    • Stroke

Learning Point
CP is a clinical diagnosis. Historically it was made after age 12 months, but can be made before 6 months. The sensitivities presented are from a systemic review for CP evaluation before 6 months.

To diagnose CP there MUST be some type of motor dysfunction – this is determined using standardized motor function evaluation tools including the Prechtl Qualitative Assessment of General Movements (GM, 98% sensitivity), and Hammersmith Infant Neurological Examination (HINE, 90% sensitivity).

There MUST ALSO be evidence of abnormal neuroimaging (magnetic resonance imaging is recommended, 86-89% sensitivity, there are various patterns of abnormalities) OR a clinical history with risk factors for cerebral palsy.

Looking at false-positives or false-negatives, the systemic review notes that “[f]alse positives occur less than 5% of the time with standardized tools.” Most parents are aware that something is wrong before the diagnosis is made, and would like to know earlier rather than later so they can help the patient’s development.

Questions for Further Discussion
1. What do you do in your location to diagnose CP?
2. What types of therapies do you have in your location for patients with CP?
3. What is the yield for genetic testing in children with a neurodevelopmental disability? A review can be found here
4. What is the definition of hypoxic-ischemic encephalopathy? A review can be found here

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Cerebral Palsy

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Novak I, Morgan C, Adde L, et al. Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy Advances in Diagnosis and Treatment. JAMA Pediatr. 2017;171(9):897-907. doi:10.1001/jamapediatrics.2017.1689

Morgan C, Fahey M, Roy B, Novak I. Diagnosing cerebral palsy in full-term infants. J Paediatr Child Health. 2018;54(10):1159-1164. doi:10.1111/jpc.14177

Michael-Asalu A, Taylor G, Campbell H, Lelea LL, Kirby RS. Cerebral Palsy. Adv Pediatr. 2019;66:189-208. doi:10.1016/j.yapd.2019.04.002

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Published