Table 2.
Cognitive, developmental, and behavioral features in Mowat-Wilson Syndrome.
| Cognitive Characteristics | Behavioral and Developmental Characteristics | |||
|---|---|---|---|---|
| Reference /Number of Patients |
Cognitive Profile | Motor Development | Speech | Behavior |
| Mowat 1998 [73]/6 | 6/6 global developmental delay (severity not reported) | severe developmental delay | speech impairment, with some patients able to pronounce some words | - |
| Yamada 2001 [3]/10 | 10/10 severe intellectual disability | 10/10 delayed motor development | speech impairment, some patients able to pronounce some words | - |
| Yoneda 2002 [78]/1 | 1/1 intellectual disability noted from 5 years | spastic paresis with hyperreflexia in the extremities | word comprehension almost normal, able to speak short sentences, | - |
| Mowat 2003 [4]/21 | 21/21 severe-moderate intellectual disability | global motor delay with median age of walking at 4, many non-deambulatory | speech is absent or restricted to a few words and is disproportionately delayed compared to comprehensionsome patients communicate successfully with signing | happy demeanor with frequent smiling |
| Zweier 2003 [8]/4 | 4/4 severe intellectual disability | - | - | happy affectionate in 3/4; not applicable in 1/4 |
| Cerruti-Mainardi 2004 [9]/2 | 2/2 severe intellectual disabilityTest performed: Denver II Scale | 2/2 motor developmental delay | 2/2 speech impairment | - |
| Ishihara 2004 [10]/19 | 18/19 severe intellectual disability, 1 intellectual disability (mild phenotype, noted at 5 years) | 18/19 delayed motor development | - | - |
| Adam 2006 [12]/32 | all except a newborn have developmental delay | None of 3 patients < 24 months were ambulatory, 7 patient > 24 months, 1 walked at 2 years, 5/7 walked at 3 years, 1/7 walked at 8 years, wide based, (median age of ambulation at 3 years) or ataxic-like gait, fine motor skills were uniformly delayed | All patient > 1 years impaired verbal language skills, 5 pts have no spoken words | 5 happy demeanors, 2 of these frequent laughter, 1 self-harm |
| Evans 2012 [75]/61 | 99% in severe-profound intellectual disability, not reported a single resulttest performed: VABS, WISC-III IV, Denver scale, Griffiths | - | - | unrealistically happy or elated, laugh or giggle for no obvious reason stand too close to others, high rate of oral behaviorsstereotyped behaviors; under reaction to pain, behavioral problems(assessed with DBC) |
| Kilic 2016 [77]/6 | 3/6 severe intellectual disability, 3/6 moderate intellectual disability | - | all presented speech impairment | All patients had happy demeanor and oral behaviors, like bruxism, mouthing, or chewing objects or body parts |
| Zweier 2006 [8]/1 | 1/1 not reported value, not severe-moderate | motor developmental delay | speech delay but by now he speaks in full sentences | - |
| Niemczyk 2017 [82]/26 | - | - | - | incontinence, self-absorbed behavior(assessed with DBC) |
| Ivanovski 2018 [7]/87 (25 unpublished) | 87/87 severe-moderate intellectual disability | hypotonia, developmental milestones delayed | speech impaired but with receptive language skills | - |
| Bonanni 2017 [63]/7 | 7/7 profound range of intellectual disability | - | absent speech | happy and sociable demeanor, repetitive and stereotyped behaviors |
| Ho 2020 [76]/15 | 15/15 severe-moderate intellectual disability | 13/15 able to walk with ataxic gait | 8/15 absent speech | 8/15 cheerful and friendly demeanor |