Rett's Disorder Diagnosis

(Also Known As: Retts Disorder Diagnosis, Rett's Diagnosis, Retts Diagnosis, Autism Diagnosis, Pervasive Development Disorder Diagnosis, Mental Retardation Diagnosis, Neurological Disorder Diagnosis)

(Reviewed by: Paul Peterson, Licensed Therapist)

How is Rett’s Disorder diagnosed?

The diagnosis of Rett's disorder is made on the basis of observation of the child—usually over a period of several hours or days—and interviews with the parents. There are no laboratory or diagnostic imaging tests for RS. The diagnosis can be made by a pediatrician or primary care physician, but should be confirmed by a pediatric neurologist (specialist in disorders of the nervous system in children) or developmental pediatrician. After the examiner has excluded the possibility of other developmental disorders, there are six criteria that must be met for a diagnosis of Rett's disorder, and a secondary group of supportive criteria that are frequently observed in RS patients but are not necessary to make the diagnosis.

DSM-IV-TR Diagnostic criteria for Rett’s Disorder:

Should include all of the following:

  • apparently normal prenatal and perinatal develoment (before 6–18 months of age)
  • apparently normal psychomotor development through the first 5 months after birth
  • normal head circumference after birth

Onset of all of the following after the period of normal development:

  • deceleration of head growth between age 5 and 48 months
  • loss of previously acquired purposeful hand skills between ages 5 and 30 months, with the subsequent development of stereotyped hand movements such as hand-mouthing or hand-wringing
  • loss of social engagement early in the course
  • appearance of poorly coordinated gait or trunk movements
  • severely impaired expressive and receptive language development with severe psychomotor retardation

Supportive criteria:

Supportive criteria are only secondary diagnostic factors to determine a particular disorder. It is not primarily essential since not all people with the disorder manifest these criteria. Nonetheless, they is strong evidence that a person who exhibits these criteria does in fact have the disorder.

Supportive criteria for Rett's disorder include:

  • dysfunctional breathing, which may include hyperventilation, breath holding, and air swallowing
  • abnormal electroencephalogram (EEG) patterns
  • seizures
  • difficulties in chewing and swallowing
  • constipation
  • muscle rigidity and contracting of the joints that increase with age
  • scoliosis (curvature of the spine from side to side)
  • teeth grinding
  • small feet in relation to overall height
  • slow overall growth
  • loss of body fat and muscle mass
  • abnormal sleeping patterns combined with irritability or agitation
  • poor circulation in the feet and legs

These supportive criteria do not always appear in young children with RS but are often observed as the child grows older. 8

Could You Have Rett's Disorder?

Rett's Disorder Topics

Related Conditions

Asperger's Syndrome – autism, delayed development in motor, communication and social skills, cognitive impairment, clumsiness
Autism – brain development disorder, Asperger’s disorder, impaired social interaction, restricted and repetitive behavior
Childhood Disintegrative Disorder - late onset of delayed development, impaired social, motor and communication skills
Pervasive Developmental Disorder NOS - delayed development in social, communication and motor skills