Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature search of studies describing neurodevelopmental outcomes of cerebellar malformations between January 1997 and December 2007. Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) type II, and cerebellar agenesis experience moderate to severe global developmental delays. Reports for Dandy-Walker malformation (DWM) were conflicting; however, the presence of a normally lobulated vermis and the absence of associated brain anomalies were associated with a more favourable outcome. Finally, children with isolated cerebellar hypoplasia experienced fewer impairments. Important methodological limitations highlighted include a lack of standardized outcome measure use in 79% of studies and the predominant use of retrospective study designs (85%), with 40% limited to case reports or case-series. In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long-term neurodevelopmental consequences of cerebellar malformations.
AimThe objective of this paper was to summarize our current knowledge of the neurodevelopmental outcomes in children with cerebellar malformations. Studies describing cognitive, language, socialization, behavioural, or neuromotor outcomes published over the past decade were systematically reviewed.
ContributorsBolduc, Marie-Eve and Catherine Limperopoulos
Disease Category: Child health, Neurology
Disease Name: Cerebellar malformations
Age Range: 0 - 18
Sex: Either
Nature of Intervention: Not specified
- None
- Systematic review of outcomes measured in trials
- Systematic review
To delineate better the current impact of cerebellar malformations on child development, we performed a systematic review of the literature on neurodevelopmental outcomes in children with cerebellar malformations limited to studies published in the past 10 years (January 1997 to December 2007). Our systematic search was performed using PubMed, Medline, and CINAHL using the following keywords: cerebellar malformation; cerebellar dysgenesis; posterior fossa malformation; posterior fossa dysgenesis; cerebellar hypoplasia, cerebellar dysplasia, cerebellar agenesis; DWM; Dandy-Walker variant (DWV); Dandy-Walker complex; Dandy-Walker syndrome; vermis hypoplasia; rhombencephalosynapsis; pontocerebellar atrophy; pontocerebellar hypoplasia, (PCH); Joubert syndrome, molar tooth sign, development, and outcome. English-language studies describing neurodevelopmental outcomes in children (0-18y) were retained for this review. The reference list of selected articles was also searched.