Correction: Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report

Correction: Journal of Medical Case Reports 18:422 (2024) 10.1186/s13256-024-04746-2

Following publication of the original article [1], an error was identified which incorrectly stated mental retardation instead of intellectual disability in five occasions.

The Abstract Case presentation currently reads:

Case presentation

We report a case of 13-year-old Saudi patient who presented with dysmorphic features as illustrated in Fig. 1, severe mental retardation, autism spectrum disorder, and attention deficit hyperactivity disorder. Initial genetic testing was unremarkable; thus, a clinical exome analysis was performed to identify the genetic basis of the condition.

The Abstract Case presentation should instead read:

Case presentation

We report a case of 13-year-old Saudi patient who presented with dysmorphic features as illustrated in Fig. 1, severe intellectual disability, autism spectrum disorder, and attention deficit hyperactivity disorder. Initial genetic testing was unremarkable; thus, a clinical exome analysis was performed to identify the genetic basis of the condition.

The first paragraph of the Case presentation section currently reads:

Case presentation

The 13-year-old Saudi girl was initially referred at the age of 10 years to the clinical genetic and metabolic disorder clinic in King Abdullah Specialist Children’s Hospital, Riyadh, after presenting with dysmorphic features, severe mental retardation, ASD, and ADHD, according to the mental health professional clinic evaluation.

The first paragraph of the Case presentation section should instead read:

Case presentation

The 13-year-old Saudi girl was initially referred at the age of 10 years to the clinical genetic and metabolic disorder clinic in King Abdullah Specialist Children’s Hospital, Riyadh, after presenting with dysmorphic features, severe intellectual disability, ASD, and ADHD, according to the mental health professional clinic evaluation.

The second and third paragraph of the Discussion and conclusions section currently reads:

Discussion and conclusions

Patients with ADNP disorders represent complex clinical cases due to the multifaceted nature of symptoms arising directly from dysregulation of transcriptional and other biochemical pathways. In addition, there are likely other secondary abnormalities that result in mental and motor delays, and abnormalities of the body and facial structure [2]. Global developmental delay, difficulty eating, and regular cyanosis are additional signs of HVDAS [9]. In addition, mood disorders combined with attention deficit/hyperactivity disorder appear to be direct consequences of children’s mental and motor retardation at an early age.

It should be noted that there can be considerable variability in the presentation of neurological and physiological symptoms in individuals with ADNP variants (including de novo variants), making the diagnosis and detection of HVDAS challenging. The Deciphering Developmental Disorders Study (2015) reported clinical findings in four cases with similar features, all of which had moderate general mental retardation. Almost all cases were accompanied by visual limb abnormalities and abnormalities related to primary and general metabolism. Furthermore, two patients had plagiocephaly and hair disorders. In a worldwide cohort of patients with HVDAS, 78 were under 40 years of age, 73% of whom were diagnosed with mental retardation [10]. On average, delayed speech and motor development were seen in 70.5% individuals, conduct disorder in 48%, and hypotonic conditions in 54% patients. In addition, eating disorders and gastrointestinal problems were present in most patients (60% individuals) [10].

The second and third paragraph of the Discussion and conclusions section should instead read:

Discussion and conclusions

Patients with ADNP disorders represent complex clinical cases due to the multifaceted nature of symptoms arising directly from dysregulation of transcriptional and other biochemical pathways. In addition, there are likely other secondary abnormalities that result in mental and motor delays, and abnormalities of the body and facial structure [2]. Global developmental delay, difficulty eating, and regular cyanosis are additional signs of HVDAS [9]. In addition, mood disorders combined with attention deficit/hyperactivity disorder appear to be direct consequences of children’s with intellectual disability at an early age.

It should be noted that there can be considerable variability in the presentation of neurological and physiological symptoms in individuals with ADNP variants (including de novo variants), making the diagnosis and detection of HVDAS challenging. The Deciphering Developmental Disorders Study (2015) reported clinical findings in four cases with similar features, all of which had moderate general intellectual disability. Almost all cases were accompanied by visual limb abnormalities and abnormalities related to primary and general metabolism. Furthermore, two patients had plagiocephaly and hair disorders. In a worldwide cohort of patients with HVDAS, 78 were under 40 years of age, 73% of whom were diagnosed with intellectual disability [10]. On average, delayed speech and motor development were seen in 70.5% individuals, conduct disorder in 48%, and hypotonic conditions in 54% patients. In addition, eating disorders and gastrointestinal problems were present in most patients (60% individuals) [10].

The five occasions have been updated above and the original article [1] has been corrected.