Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Urea Cycle01:23

Urea Cycle

The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Information Processing Approach01:30

Information Processing Approach

The information-processing theory of cognitive development centers on fundamental mental processes, including attention, memory, and problem-solving skills. Researchers in this field examine how cognitive abilities, such as working memory, evolve and influence children's overall development. Studies indicate that children with stronger working memory tend to excel in reading comprehension, math, and problem-solving compared to peers with less efficient memory skills. Low working memory is also...
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.
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Evolution of the Neurometabolic Cascade of Traumatic Brain Injury.

Neurologic clinics·2026
Same author

Return-to-school protocols in pediatric concussion care.

Seminars in pediatric neurology·2026
Same author

Linking Symptom Inventories Using Semantic Textual Similarity.

Journal of neurotrauma·2025
Same author

Evidence Suggesting Prolonged Neuroinflammation in a Subset of Children after Moderate/Severe TBI: A UCLA RAPBI Study.

medRxiv : the preprint server for health sciences·2025
Same author

Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline.

Pediatric research·2024
Same author

Surgical outcomes and long-term survival of laparoscopic distal gastrectomy at high-volume centers in Korea and China: a two-centered retrospective analysis.

Surgery today·2024

Related Experiment Video

Updated: Jun 24, 2026

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
07:05

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay

Published on: September 27, 2024

Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.

Lauren Krivitzky1, Talin Babikian, Hye-Seung Lee

  • 1Department of Psychiatry and Behavioral Sciences, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA. lkrivitz@cnmc.org

Pediatric Research
|March 17, 2009
PubMed
Summary

Children with urea cycle disorders (UCDs) face significant neurodevelopmental challenges. Neonatal onset UCDs are linked to worse cognitive and adaptive outcomes, including intellectual disability, compared to later onset forms.

More Related Videos

Measuring the Functional Abilities of Children Aged 3-6 Years Old with Observational Methods and Computer Tools
11:29

Measuring the Functional Abilities of Children Aged 3-6 Years Old with Observational Methods and Computer Tools

Published on: June 20, 2020

Using Brain Activation (nir-HEG/Q-EEG) and Execution Measures (CPTs) in a ADHD Assessment Protocol
13:09

Using Brain Activation (nir-HEG/Q-EEG) and Execution Measures (CPTs) in a ADHD Assessment Protocol

Published on: April 1, 2018

Related Experiment Videos

Last Updated: Jun 24, 2026

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
07:05

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay

Published on: September 27, 2024

Measuring the Functional Abilities of Children Aged 3-6 Years Old with Observational Methods and Computer Tools
11:29

Measuring the Functional Abilities of Children Aged 3-6 Years Old with Observational Methods and Computer Tools

Published on: June 20, 2020

Using Brain Activation (nir-HEG/Q-EEG) and Execution Measures (CPTs) in a ADHD Assessment Protocol
13:09

Using Brain Activation (nir-HEG/Q-EEG) and Execution Measures (CPTs) in a ADHD Assessment Protocol

Published on: April 1, 2018

Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Inborn errors of urea synthesis cause ammonia accumulation, leading to mortality and neurodevelopmental disability.
  • Urea cycle disorders (UCDs) represent a spectrum of genetic conditions affecting ammonia detoxification.
  • Understanding the long-term functional outcomes in children with UCDs is crucial for effective management.

Purpose of the Study:

  • To characterize cognitive, adaptive, and emotional/behavioral functioning in children with UCDs.
  • To compare outcomes between neonatal onset (NO) and late onset (LO) UCD presentations.
  • To identify specific neurocognitive and behavioral challenges associated with UCDs.

Main Methods:

  • Cognitive, adaptive, and emotional/behavioral domains were assessed in 92 children with UCDs.
  • Data collection involved standardized testing and parent-reported questionnaires.
  • Participants were stratified into neonatal onset (n=33) and late onset (n=59) groups.

Main Results:

  • Children with neonatal onset UCDs exhibited poorer outcomes than those with late onset UCDs.
  • Approximately 50% of neonatal onset cases presented with intellectual disability (ID), with 30% severely impaired.
  • Late onset UCDs also showed impairments, particularly in attention and executive functions, with about 25% in the ID range.

Conclusions:

  • UCDs result in a wide spectrum of cognitive and functional outcomes.
  • Neonatal onset UCDs carry a significantly higher risk of intellectual disability, which may worsen with age.
  • Even late onset UCDs are associated with neurocognitive and behavioral deficits, impacting executive functions and attention.