Related Experiment Video

Updated: Aug 19, 2026

Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats
06:38

Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats

Published on: October 13, 2018

Is the early development of girls with Rett disorder really normal?

Christa Einspieler1, Alison M Kerr, Heinz F R Prechtl

  • 1Section Developmental Physiology and Developmental Neurology, Institute of Physiology, Center for Physiological Medecine, Medical University of Graz, A-8010 Graz, Austria. christa.einspieler@meduni-graz.at

Pediatric Research
|February 19, 2005
PubMed

Insights

Early signs of Rett syndrome are present within the first six months of life. This study identified specific abnormal movements and behaviors in infants, aiding early diagnosis and intervention for this neurodevelopmental disorder.

Area of Science:

  • Neurodevelopmental disorders
  • Pediatric neurology
  • Movement disorders

Background:

  • Classical Rett syndrome diagnosis historically required normal early development.
  • Emerging evidence suggested Rett syndrome manifests much earlier in infancy.
  • Understanding early signs is crucial for timely intervention.

Purpose of the Study:

  • To investigate early motor and behavioral signs in infants with Rett syndrome within the first six months of life.
  • To determine if Rett syndrome presents with observable abnormalities shortly after birth.
  • To provide evidence supporting early diagnosis of Rett syndrome.

Main Methods:

  • Video analysis of 22 infants diagnosed with Rett syndrome.
  • Systematic assessment of movements, posture, and behavior during the first six months of life.
  • Meticulous recording of deviations from normal developmental standards.

Main Results:

  • Abnormal general movements (100%) were universally observed.
  • Other common early signs included tongue protrusion (62%) and postural stiffness (58%).
  • Asymmetric eye movements (56%), abnormal finger movements (52%), and hand stereotypies (42%) were also frequently noted.

Conclusions:

  • Rett syndrome is demonstrably a disorder manifesting within the first months of life.
  • Early identification of specific movement and behavioral patterns can alert clinicians to potential diagnosis.
  • Early diagnosis facilitates prompt intervention, potentially improving outcomes for affected children.

More Related Videos

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers09:16

Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers

Published on: March 14, 2018

Neurodevelopmental Reflex Testing in Neonatal Rat Pups09:35

Neurodevelopmental Reflex Testing in Neonatal Rat Pups

Published on: April 24, 2017

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Oppositional Defiant Disorder01:30

Oppositional Defiant Disorder

A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
Diagnostic Criteria and...
Conduct Disorder01:28

Conduct Disorder

Conduct disorder is a complex mental health diagnosis characterized by a repetitive and persistent pattern of behavior that violates societal norms, the rights of others, or age-appropriate rules. The diagnostic criteria for conduct disorder require the presence of at least three problematic behaviors within the past 12 months, with at least one occurring in the past six months. These behaviors are grouped into four categories: aggression toward people and animals; destruction of property;...
Socioemotional Experience and Gender Development01:30

Socioemotional Experience and Gender Development

Social-emotional experiences and cultural influences play significant roles in shaping gender development. During middle childhood, from ages 6 to 11, peer groups become dominant in reinforcing gender norms. Children in this age group often align with same-gender peer groups, which actively encourage behaviors that conform to traditional gender roles. For instance, boys may be discouraged from engaging in activities perceived as feminine, reinforcing culturally dictated norms about masculinity...
Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings.
Psychosexual Stages of Personality: Latency01:16

Psychosexual Stages of Personality: Latency

Following the phallic stage in Freud's theory of psychosexual development, children enter a phase called the latency period, which lasts from approximately six to twelve years of age. Unlike earlier stages, where sexual impulses played a central role, Freud believed these impulses are repressed during the latency period, becoming part of the unconscious. This stage is often described as a time of psychological calm after the turbulence of the phallic stage.
The latency period is not considered...