Psychiatric comorbidity with hypothalamic hamartoma: Systematic review for predictive clinical features

Killeen, Zachary; Bunch, Raymond; Kerrigan, John F.

doi:10.1016/j.yebeh.2017.05.019

Cited by 19 publications

(15 citation statements)

References 57 publications

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“…Factors associated with more severe cognitive impairment include larger tumours, early seizure onset, higher seizure frequency, and use of multiple antiepileptic medications. 13 These findings are largely consistent with findings in other hamartomatous disorders such as tuberous sclerosis. 14…”

Section: Cognitive Impairmentsupporting

confidence: 86%

“…The cognitive profiles of children with hypothalamic hamartomas vary from normal to severe intellectual disability; additionally, cognitive dysfunction may be progressive. Factors associated with more severe cognitive impairment include larger tumours, early seizure onset, higher seizure frequency, and use of multiple antiepileptic medications . These findings are largely consistent with findings in other hamartomatous disorders such as tuberous sclerosis …”

Section: Hypothalamic Hamartomassupporting

confidence: 80%

“…This study has found associations between several risk factors and a range of psychopathological disorders in children and adolescents with hypothalamic hamartoma. Although other studies have looked at the risk for isolated behavioural traits, this is the first, to our knowledge, to attempt to rigorously determine the prevalence rates and associated risk factors for this range of disorders. The case series presented here (the largest so far reported for paediatric hypothalamic hamartomas) and systematic review both demonstrate that hypothalamic hamartomas in children and adolescents are associated with a significant burden of neuropsychiatric morbidity.…”

Section: Discussionmentioning

confidence: 99%

“…Research into the psychopathology of hypothalamic hamartomas has been largely limited to descriptions in case reports and case series owing to the rarity of the disorder. For this reason, reported prevalence rates are variable, but recent estimates indicate that up to 50% of cases present with progressive comorbid cognitive impairment and psychiatric symptomatology . Longitudinal relationships and possible causal pathways between the physical phenotypes (epilepsy and precocious puberty), psychiatric phenotypes, and cognitive profiles of children with hypothalamic hamartomas have not been fully established.…”

Section: Hypothalamic Hamartomasmentioning

confidence: 99%

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Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series

Burcher

Liang

Lancaster

et al. 2019

Develop Med Child Neuro

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Aim To evaluate neuropsychiatric comorbidities in children and adolescents with hypothalamic hamartoma. Method We retrospectively analysed case notes for all individuals with hypothalamic hamartoma referred to Great Ormond Street Hospital, London, between 2000 and 2016. In addition, a systematic review aiming to identify all previous paediatric case series was performed. Psychiatric symptoms, demographics, physical comorbidities, and cognitive functioning were recorded for all cases where possible. Analyses were performed to determine which factors were associated with psychopathology and potential mechanisms investigated. Results Forty‐six cases were included in the case series (28 males, 18 females; mean age at assessment 11y 8mo [1y 11mo–16y 11mo, SD 4y 0mo]). Twenty‐nine papers representing data from 264 cases met inclusion criteria for the systematic review. Overall, at least 50% of cases presented with psychopathology. Epilepsy, intellectual disability, and male sex were associated with externalizing disorders (attention‐deficit/hyperactivity disorder, conduct and oppositional defiance disorders, and rage attacks). Intellectual disability mediated the effects of epilepsy on externalizing psychopathology. No factors were associated with internalizing disorders (anxiety and depressive disorders), although these were not well reported. Interpretation Psychiatric comorbidities are highly prevalent in the presentation of paediatric hypothalamic hamartoma. The aetiology of psychopathology comprises a range of interacting biological and psychosocial factors with particular influence from epilepsy. Further research is required to achieve an evidence base for treatment. What this paper adds Over half of children with hypothalamic hamartoma present with psychiatric comorbidity. Externalizing and internalizing disorders are present in approximately 60% and 30% of children with hypothalamic hamartomas respectively. Epilepsy and male sex are associated with externalizing psychopathology. Intellectual disability mediates the association between epilepsy and externalizing symptoms. No clear associations are evident for internalizing disorders or precocious puberty.

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Section: Cognitive Impairmentsupporting

confidence: 86%

Section: Hypothalamic Hamartomassupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Hypothalamic Hamartomasmentioning

confidence: 99%

See 2 more Smart Citations

Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series

Burcher

Liang

Lancaster

et al. 2019

Develop Med Child Neuro

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“…Other types of seizures and precocious puberty can also occur. Combination of all these features is not constant and, when present, their evaluation may be variable [6] , [7] , [8] , [9] , [10] , [11] .…”

Section: Introductionmentioning

confidence: 99%

Long-term use of methylphenidate in a boy with hypothalamic tumor, drug-resistant epilepsy and ADHD

Socanski

Jović²,

Beneventi

et al. 2018

Epilepsy & Behavior Case Reports

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Considering gene therapy to protect from X‐linked deafness DFNX2 and associated neurodevelopmental disorders

Defourny

2022

Ibrain

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Mutations and deletions in the gene or upstream of the gene encoding the POU3F4 transcription factor cause X-linked progressive deafness DFNX2 and additional neurodevelopmental disorders in humans. Hearing loss can be purely sensorineural or mixed, that is, with both conductive and sensorineural components. Affected males show anatomical abnormalities of the inner ear, which are jointly defined as incomplete partition type III. Current approaches to improve hearing and speech skills of DFNX2 patients do not seem to be fully effective. Owing to inner ear malformations, cochlear implantation is surgically difficult and may predispose towards severe complications. Even in cases where implantation is safely performed, hearing and speech outcomes remain highly variable among patients. Mouse models for DFNX2 deafness revealed that sensorineural loss could arise from a dysfunction of spiral ligament fibrocytes in the lateral wall of the cochlea, which leads to reduced endocochlear potential. Highly positive endocochlear potential is critical for sensory hair cell mechanotransduction and hearing. In this context, here, we propose to develop a therapeutic approach in male Pou3f4 −/y mice based on an adeno-associated viral (AAV) vector-mediated gene transfer in cochlear spiral ligament fibrocytes. Among a broad range of AAV vectors, AAV7 was found to show a strong tropism for the spiral ligament. Thus, we suggest that an AAV7mediated delivery of Pou3f4 complementary DNA in the spiral ligament of Pou3f4 −/y mice could represent an attractive strategy to prevent fibrocyte degeneration and to restore normal cochlear functions and properties, including a positive endocochlear potential, before hearing loss progresses to profound deafness.

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Psychiatric comorbidity with hypothalamic hamartoma: Systematic review for predictive clinical features

Cited by 19 publications

References 57 publications

Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series

Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series

Long-term use of methylphenidate in a boy with hypothalamic tumor, drug-resistant epilepsy and ADHD

Considering gene therapy to protect from X‐linked deafness DFNX2 and associated neurodevelopmental disorders

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