Abraham Shalu Elizabeth, Atmaram Sakhardande Kasturi, Khadanga Poornima, Mukherjee Nirmalya, Madegowda Rajendra Kiragasur, Manohar Harshini
Department of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India.
BJPsych Open. 2025 Jan 27;11(1):e25. doi: 10.1192/bjo.2024.840.
Developmental regression in children, in the absence of neurological damage or trauma, presents a significant diagnostic challenge. The complexity is further compounded when it is associated with psychotic symptoms.
We discuss a case series of ten children aged 6-10 years, with neurotypical development, presenting with late-onset developmental regression (>6 years of age), their clinical course and outcome at 1 year. A comprehensive clinical evaluation, laboratory investigations and neuroimaging ruled out any identifiable neurological cause.
Mean age at regression was 7.65 (s.d. 1.5) years and mean illness duration was 10.1 (s.d. 8.5) months. The symptom domains included regression (in more than two domains - cognitive, socio-emotional, language, bowel and bladder incontinence), emotional disturbances, and hallucinatory and repetitive behaviours. Response to treatment was gradual over 6 months to 1 year. At 1-year follow-up, nine children did not attain pre-regression functioning, and residual symptoms included not attaining age-appropriate speech and language, socio-emotional reciprocity and cognitive abilities.
These cases demonstrate a unique pattern of regression with psychiatric manifestations, distinct from autism spectrum disorder and childhood-onset schizophrenia. The diagnostic dilemma arises from the overlap of symptoms with childhood disintegrative disorder (CDD), childhood-onset schizophrenia and autism. This study underscores the diagnostic intricacies of this clinical presentation and highlights the need for longitudinal follow-up to unravel the transitions in phenomenology, course and outcome. For severe manifestations such as developmental regression, where the illness is still evolving, considering CDD as a non-aetiological and transitory/tentative diagnosis would aid against premature diagnostic categorisation and provide scope for ongoing aetiological search.
在无神经损伤或创伤的情况下，儿童发育倒退带来了重大的诊断挑战。当它与精神病性症状相关联时，复杂性进一步加剧。
我们讨论了一组10例6至10岁、发育正常的儿童病例系列，这些儿童出现迟发性发育倒退（>6岁），报告了他们的临床病程及1年时的转归。全面的临床评估、实验室检查和神经影像学检查排除了任何可识别的神经病因。
发育倒退的平均年龄为7.65（标准差1.5）岁，平均病程为10.1（标准差8.5）个月。症状领域包括倒退（在两个以上领域——认知、社会情感、语言、大小便失禁）、情绪障碍以及幻觉和重复行为。治疗反应在6个月至1年的时间里逐渐显现。在1年随访时，9名儿童未恢复到发育倒退前的功能水平，残留症状包括未达到与其年龄相称的言语和语言能力、社会情感互动能力和认知能力。
这些病例展示了一种伴有精神症状的独特倒退模式，有别于自闭症谱系障碍和儿童期起病的精神分裂症。诊断困境源于症状与儿童瓦解性障碍（CDD）、儿童期起病的精神分裂症和自闭症的重叠。本研究强调了这种临床表现的诊断复杂性，并突出了进行纵向随访以阐明现象学、病程和转归变化的必要性。对于发育倒退等严重表现，在疾病仍在进展时，将CDD视为非病因性的、暂时/暂定的诊断有助于避免过早的诊断分类，并为持续的病因学探索提供空间。
