Disorders of cognitive and affective development in cerebellar malformations

Abstract

Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time.

Outcome of severe unilateral cerebellar hypoplasia

“…28 Right cerebellar lesions have been reported to be particularly associated with a decline in verbal abilities, whereas left cerebellar lesions correlated with impairment in executive functions, and vermal lesions with disorders in social behaviour. However, in our series, as well as in another series of patients with cerebellar malformations, 29 it was not possible to establish strict anatomical and functional correlations. The type and extent of cerebellar reorganization processes following a prenatal disruption may account for the variability in the clinical, cognitive, and affective presentation, as in congenital hemiparesis.…”

“…Cerebellar cognitive affective syndrome has been reported in children with acquired cerebellar lesions such as cerebellar tumours 27,28 and congenital cerebellar malformations. 29 Cognitive outcome was reported in only seven of the 18 previously reported cases (four patients were too young, two patients died in utero, and in five patients outcome was not described). [9][10][11][12][13] Normal cognitive development has been reported in three patients, although no IQ results were documented.…”

“…Conversely, patients with lesions confined to the cerebellar hemispheres have a favourable outcome with normal cognitive functions. 29 We are aware of only one patient with detailed neuropsychological assessment. 13 This was a 14-year-old male who showed impaired performance in executive functions, spatial and visual perception, graphomotor and arithmetic skills, and social perception and comprehension.…”

Patterns of Brain Structural Changes in First-Contact, Antipsychotic Drug-Naïve Patients with Schizophrenia

“…36 Cerebellar damage has been shown to be associated with negative symptoms and mood and behavioral dysregulation. 37 Reduced volume of the precuneus was also found in patients with schizophrenia and was associated with delusions of control. 38 We also detected reduced volume of the superior occipital region, which subtends perceptual functions known to be frequently altered in schizophrenia.…”

Behavioural and neural basis of anomalous motor learning in children with autism

“…It is important to note that the cerebellum is not simply a motor structure, and is reciprocally connected to association regions within the frontal cortex (Middleton and Strick, 2001) and the basal ganglia (Middleton and Strick, 2000). Children with congenital or early cerebellar insults show a range of autistic symptoms (Tavano et al, 2007), while adults with acquired cerebellar disease experience a host of non-motor symptoms, termed the Cerebellar Cognitive Affective Syndrome, impacting executive function, visual spatial abilities, language, and affect (Schmahmann and Sherman, 1998). Therefore, damage to the cerebellum can have effects far outside of the motor domain.…”