Practice parameter: Evaluation of the child with global developmental delay

Whelen, M.; Crawford, Thomas O.; Comi, Anne M.; Freeman, John M.; Kossoff, Eric H.; Singer, Hedy K.; Vining, Eileen P.G.; Yohay, Kaleb; Shevell, Michael; Ashwal, Stephen; Tardo, Carmela; Franklin, Gary M.

doi:10.1212/wnl.61.9.1315

Cited by 23 publications

(4 citation statements)

References 87 publications

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“…Although there is no exact definition, the DD concept is generally used to describe delays in major criteria of the developmental process, including cognitive, physical, communication, emotional, and social impairments [ 1 ]. DD incidence rate in the general population is close to 3% [ 2 , 3 ]. Early screening of DD may represent an important strategy to support early therapeutic intervention and enhance the prognosis of those affected [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

Lee

Park

et al. 2020

Healthcare

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Chromosomal microarray (CMA) is considered a first-tier test for genetic analysis as it can be used to examine gene copy number variations (CNVs) throughout the entire genome, with enhanced sensitivity for detecting submicroscopic deletions and duplications. However, its cost can represent a heavy burden. Moreover, the diagnostic yield of CMA in infants with developmental delay (DD) was reported to be less than 10%. Therefore, we aimed to investigate the relationship between CMA results and clinical features and risk factors of DD. The study included 59 infants with DD who were recruited between August 2019 and February 2020 during a visit to the outpatient clinic of a rehabilitation department. We reviewed the clinical records of the infants regarding gender, age, body weight at birth, delivery method, brain imaging data, perinatal history, and parent-related clinical parameters, such as mother and father age at birth. The infants were categorized according to CMA results, and differences in clinical parameters were evaluated. Except for brain anomalies, there was no statistically significant differences between infants who had pathogenic and variants of unknown significance (VOUS)-likely pathogenic CNVs groups compared with those within the VOUS-likely no sub-classification, VOUS-likely benign, benign, and normal CNVs groups. The incidence of brain anomalies was significantly higher within infants with pathogenic and VOUS-likely pathogenic CNVs groups (p < 0.05). Our study suggests that infants with DD who present dysmorphism or brain anomaly may benefit from early CMA analysis, for adequate diagnosis and timely treatment. Further studies are warranted to confirm the relationship between DD clinical parameters and CMA results.

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Section: Introductionmentioning

confidence: 99%

Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

Lee

Park

et al. 2020

Healthcare

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“…Developmental delay (DD) in children is characterized by significantly delayed development in two or more of the following developmental domains: gross/fine motor, speech/language, cognition, social/personal skills, and activities of daily living 1, 2 . In particular, DD is almost always accompanied by significant speech/language delay.…”

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confidence: 99%

Sensitive Diffusion Tensor Imaging Quantification Method to Identify Language Pathway Abnormalities in Children with Developmental Delay

Gopal

Tiwari

Veenstra

et al. 2012

The Journal of Pediatrics

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Objective To investigate whether abnormal regional white matter architecture in the perisylvian region could be used as an easy and sensitive quantitative method to demonstrate language pathway abnormalities in children with developmental delay (DD). Study design We performed diffusion tensor imaging (DTI) in 15 DD subjects (age: 61.1± 20.9 months) and 15 age-matched typically developing (TD) children (age: 68.4± 19.2). Using DTI color-coded orientation maps, we quantified the fraction of fibers in the perisylvian region that are oriented in anteroposterior (AP) and mediolateral (ML) directions and their ratio(AP/ML) was calculated. Results The AP/ML ratio was more sensitive than tractography in characterizing perisylvian regional abnormalities in DD children. The AP/ML ratio of the left perisylvian region was significantly lower in DD children compared with TD children (p = 0.03). The ML component of bilateral perisylvian regions was significantly higher in DD children compared with TD children (p=0.01 (left) and p=0.004(right)). No significant difference was found in the AP component between the two groups. A significant negative correlation of the left ML component with Vineland communication skills was observed (r = −0.657, p=0.011). Conclusions The AP/ML ratio appears to be a sensitive indicator of regional white matter architectural abnormalities in the perisylvian region of DD children.

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“…Around 17% of children referred to a community paediatric clinic, will be because of a developmental concern 1 and is acknowledged as affecting 1–3% of children. 2 The role of the paediatrician is to seek to establish the aetiology and to help the child and family.…”

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confidence: 99%

Global developmental delay – globally helpful?

Williams¹

2010

Develop Med Child Neuro

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Practice parameter: Evaluation of the child with global developmental delay

Cited by 23 publications

References 87 publications

Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

Sensitive Diffusion Tensor Imaging Quantification Method to Identify Language Pathway Abnormalities in Children with Developmental Delay

Global developmental delay – globally helpful?

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